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Biochemistry

Genetic Tests in Dubai & UAE

Investigations in this area, with the specimen type, turnaround time and listed price for each option — so you and your clinician can compare before you book.

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Genetic investigations

All 805 investigations in this category are listed below.

Genetic tests offered by DNA Labs UAE — compare specimen type, turnaround time and listed price. Preparation and clinical interpretation are confirmed with your clinician before collection.
Test What it measures Specimen Turnaround Price Book
6q24‑Related Transient Neonatal Diabetes Mellitus Type 1 (TNDM) Genetic Test TEST-6038 LOINC 81226-5 This genetic test detects paternal uniparental disomy of chromosome 6 (UPD(6)pat), the hallmark of 6q24-related Transient Neonatal Diabetes Mellitus T... Whole blood, extracted DNA, or dried blood spot (FTA card) 21–28 working days 2,800.00 AED Details
AAAS Gene (Achalasia-Addisonianism-Alacrimia Syndrome) Next-Generation Sequencing (NGS) Genetic Test TEST-3705 LOINC 81261-3 This test evaluates the AAAS gene for mutations associated with Triple A (Allgrove) syndrome, a rare disorder affecting the esophagus, adrenal glands,... Peripheral Whole Blood 3 to 4 weeks 2,800.00 AED Details
AAGAB Gene Keratoderma, Palmoplantar, Punctate Type 1A Genetic Test TEST-4848 LOINC 81247-7 This genetic test evaluates the AAGAB gene for pathogenic variants associated with palmoplantar punctate keratoderma type 1A. Whole blood (EDTA), extracted DNA, or FTA card 3–4 weeks 2,800.00 AED Details
AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 Genetic Test TEST-4263 LOINC 82930-0 This genetic test identifies pathogenic variants in the AARS1 gene associated with early infantile epileptic encephalopathy type 29. Peripheral Whole Blood (EDTA tube) 3–4 Weeks 2,800.00 AED Details
AARS2 Gene (Combined Oxidative Phosphorylation Deficiency Type 8) DNA Test TEST-6270 LOINC 101638-4 This test identifies pathogenic variants in the AARS2 gene associated with Combined Oxidative Phosphorylation Deficiency Type 8. Peripheral whole blood 3–4 weeks 2,800.00 AED Details
ABCA1 Gene Genetic Test for Coronary Artery Disease & Familial Hypercholesterolemia Susceptibility TEST-4054 LOINC 92031-4 This test evaluates the ABCA1 gene for pathogenic variants linked to premature coronary artery disease and familial hypercholesterolemia. Whole Blood / Peripheral Blood 3 – 4 Weeks 2,800.00 AED Details
ABCB7 Gene Sideroblastic Anemia with Ataxia Genetic Test TEST-3356 LOINC 87039-8 This test sequences the ABCB7 gene to detect pathogenic variants associated with X-linked sideroblastic anemia with ataxia. Whole Blood (peripheral venous) 3–4 Weeks 2,800.00 AED Details
ABCC2 Gene Dubin-Johnson Syndrome Genetic Test TEST-3887 LOINC 69047-9 This genetic test evaluates the ABCC2 gene for mutations associated with Dubin-Johnson syndrome. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
ABCC6 Gene Pseudoxanthoma Elasticum (Forme Fruste) Genetic Test TEST-4637 LOINC 99157-1 This genetic test evaluates the ABCC6 gene for pathogenic variants associated with pseudoxanthoma elasticum (PXE) and its forme fruste presentation. Peripheral Whole Blood 3–4 Weeks (Express: 14 Business Days) 2,800.00 AED Details
ABCC6 Gene Pseudoxanthoma Elasticum Genetic Test TEST-4617 LOINC 20316-4 This genetic test analyzes the ABCC6 gene to detect pathogenic variants associated with pseudoxanthoma elasticum (PXE). Whole Blood or DNA FTA Card 3 to 4 weeks 2,800.00 AED Details
ABCC6 Gene Sequencing for Generalized Arterial Calcification Type 2 (Infantile) Test TEST-4041 LOINC 21615-9 This test identifies pathogenic variants within the ABCC6 gene, the primary cause of Generalized Arterial Calcification of Infancy (GACI) type 2. Peripheral whole blood (EDTA tube) 3–4 Weeks 2,800.00 AED Details
ABCC8 Gene (Hypoglycemia of Infancy, Leucine-Sensitive) Next‑Generation Sequencing Genetic Test TEST-6126 LOINC 81198-4 This test identifies pathogenic variants in the ABCC8 gene associated with congenital hyperinsulinism and leucine-sensitive hypoglycemia. Peripheral Whole Blood (3–5 mL in EDTA tube) 3–4 Weeks 2,800.00 AED Details
ABCC8 Gene Hyperinsulinemic Hypoglycemia Type 1 Genetic Test TEST-6241 LOINC 97920-5 This genetic test detects pathogenic variants in the ABCC8 gene associated with congenital hyperinsulinemic hypoglycemia type 1. Whole Blood (1 mL) or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
ABCC9 Gene Atrial Fibrillation Type 12 Genetic Test TEST-4423 LOINC 81269-7 This test evaluates the ABCC9 gene for pathogenic variants associated with familial atrial fibrillation type 12. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
ABCD4 Gene Methylmalonic Aciduria CblJ Type Genetic Test TEST-6036 LOINC 21656-9 This test identifies pathogenic variants in the ABCD4 gene, confirming a diagnosis of methylmalonic aciduria, CblJ type. 5 mL EDTA Whole Blood 3 to 4 Weeks 2,800.00 AED Details
ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test TEST-4735 LOINC 81315-5 This test identifies pathogenic variants in the ACAD9 gene associated with Leigh syndrome and mitochondrial encephalopathy. Peripheral whole blood (EDTA) 3 – 4 Weeks 2,800.00 AED Details
ACADL Gene LCAD Deficiency Genetic Test TEST-6130 LOINC 21661-2 This test analyzes the ACADL gene for pathogenic variants associated with Long-Chain Acyl-CoA Dehydrogenase (LCAD) deficiency, an inherited metabolic... Peripheral Whole Blood (EDTA) or Dried Blood Spot (DBS) 3–4 weeks 2,800.00 AED Details
ACADM Gene (Medium-Chain Acyl-CoA Dehydrogenase Deficiency) Genetic Test TEST-5955 LOINC 82232-2 This genetic test identifies pathogenic variants in the ACADM gene associated with Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD deficiency). Peripheral Whole Blood (EDTA tube) 3–4 Weeks 2,800.00 AED Details
ACADSB Gene 2‑Methylbutyrylglycinuria Genetic Test TEST-5911 LOINC 55230-4 This genetic test evaluates the ACADSB gene for pathogenic variants associated with 2‑methylbutyrylglycinuria. Peripheral Whole Blood (EDTA) or Saliva (Oragene) 3–4 Weeks 2,800.00 AED Details
ACHE Gene Acetylcholinesterase Deficiency Genetic Test TEST-5946 LOINC 77607-5 This test identifies pathogenic variants in the ACHE gene associated with acetylcholinesterase deficiency. Peripheral whole blood (5 mL EDTA) 3 to 4 weeks 2,800.00 AED Details
ACOX1 Gene (Peroxisomal Acyl-CoA Oxidase Deficiency) Genetic Test TEST-3707 LOINC 94541-6 This test evaluates the ACOX1 gene for pathogenic variants associated with peroxisomal acyl-CoA oxidase deficiency. Peripheral Whole Blood 21-28 Working Days 2,800.00 AED Details
ACP2 Gene Lysosomal Acid Phosphatase Deficiency Genetic Test TEST-6105 LOINC 92851-1 This genetic test evaluates the ACP2 gene for mutations associated with lysosomal acid phosphatase deficiency. Whole blood 3–4 weeks from sample receipt 2,800.00 AED Details
ACTA1 Gene Nemaline Myopathy Type 3 Genetic Test TEST-5294 LOINC 88554-0 This test evaluates the ACTA1 gene for pathogenic variants associated with nemaline myopathy type 3. Peripheral Venous Blood (EDTA) 3 to 4 Weeks 2,800.00 AED Details
ACTA2 Gene Moyamoya Disease Type 5 Genetic Test TEST-4138 LOINC 81765-6 This test identifies genetic variants within the ACTA2 gene associated with Moyamoya disease type 5. Peripheral whole blood 3–4 weeks 2,800.00 AED Details
ACTB Gene Baraitser-Winter Syndrome Type 1 Genetic Test TEST-3079 LOINC 96527-2 This genetic test identifies pathogenic variants within the ACTB gene, confirming a diagnosis of Baraitser-Winter syndrome type 1. Blood (EDTA) or DNA FTA Card 3–4 Weeks 2,800.00 AED Details
ACTG1 Gene Baraitser‑Winter Syndrome Type 2 Genetic Test TEST-3052 LOINC 95075-6 This test identifies pathogenic variants in the ACTG1 gene associated with Baraitser‑Winter syndrome type 2. Whole Blood (Peripheral) 3–4 weeks (stat reporting available) 2,800.00 AED Details
ACTN1 Gene Bleeding Disorder, Platelet-Type 15 Genetic Test TEST-3316 LOINC 78041-7 This genetic test evaluates the ACTN1 gene for pathogenic variants associated with Platelet-Type 15 Bleeding Disorder. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
ADA Gene Severe Combined Immunodeficiency (ADA-SCID) Genetic Test TEST-4588 LOINC 21613-5 This test identifies genetic mutations in the ADA gene responsible for Severe Combined Immunodeficiency (ADA-SCID). It uses Next-Generation Sequencing... Whole Blood (Peripheral) 3-4 Weeks 2,800.00 AED Details
ADA2 Gene Sequencing for Childhood-Onset Polyarteritis Nodosa Test TEST-3975 LOINC 95034-2 This test evaluates the entire coding region of the ADA2 gene for mutations associated with DADA2. Whole Blood (Venipuncture) 3 to 4 Weeks 2,800.00 AED Details
ADAM22 Gene Neurodevelopmental Disorder Genetic Test TEST-5317 LOINC 101246-3 This test detects pathogenic variants in the ADAM22 gene associated with severe neurodevelopmental disorders and early-onset epileptic encephalopathy. Peripheral Whole Blood (5-10 mL) or Saliva (Oragene DNA Kit) 3-4 Weeks 2,800.00 AED Details
ADAMTS13 Gene Thrombotic Thrombocytopenic Purpura (TTP) Genetic Test TEST-3151 LOINC 81311-5 This genetic test identifies mutations in the ADAMTS13 gene associated with congenital Thrombotic Thrombocytopenic Purpura (TTP). Whole Blood (EDTA) or FTA Card 3–4 Weeks 2,800.00 AED Details
ADAMTS2 Gene Ehlers-Danlos Syndrome Type 7C (Dermatosparaxis) Genetic Test TEST-5193 LOINC 81247-7 This genetic test analyzes the ADAMTS2 gene for mutations associated with Ehlers-Danlos syndrome type VIIC (dermatosparaxis). It identifies pathogenic... Peripheral whole blood 3–4 Weeks (Rush option available) 2,800.00 AED Details
ADAMTSL4 Gene Ectopia Lentis et Pupillae Genetic Test TEST-3609 LOINC 51234-5 This test detects pathogenic variants in the ADAMTSL4 gene associated with ectopia lentis et pupillae. Peripheral whole blood (EDTA tube) 3–4 weeks 2,800.00 AED Details
ADAR Gene Dyschromatosis Symmetrica Hereditaria Genetic Test TEST-3605 LOINC 43401-2 This test identifies pathogenic variants in the ADAR gene associated with Dyschromatosis Symmetrica Hereditaria (DSH). Peripheral whole blood 3–4 weeks 2,800.00 AED Details
ADCY5 Gene Dyskinesia, Familial, with Facial Myokymia Genetic Test TEST-4174 LOINC 83429-6 This genetic test identifies pathogenic variants in the ADCY5 gene associated with familial dyskinesia with facial myokymia. Peripheral whole blood (EDTA tube) or saliva 3–4 Weeks 2,800.00 AED Details
ADK Gene Hypermethioninemia due to Adenosine Kinase Deficiency Genetic Test TEST-2732 LOINC 101404-3 This genetic test evaluates the adenosine kinase (ADK) gene for pathogenic variants associated with hypermethioninemia. Peripheral whole blood 3-4 Weeks 2,800.00 AED Details
AGA Gene Aspartylglucosaminuria Genetic Test TEST-6123 LOINC 94227-4 This test performs full-coding-region sequencing of the AGA gene to detect pathogenic point mutations, small insertions or deletions, and copy-number... Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Blood Spot 3–4 Weeks 2,800.00 AED Details
AGK Gene Cataract, Autosomal Recessive Type 38 Genetic Test TEST-3524 LOINC 91727-1 This genetic test detects mutations in the AGK gene associated with congenital cataract and mitochondrial dysfunction. Whole Blood (Peripheral) 3 – 4 Weeks 2,800.00 AED Details
AGTR1 Gene Renal Tubular Dysgenesis Genetic Test TEST-3523 LOINC 90507-6 This test identifies pathogenic mutations in the AGTR1 gene associated with autosomal recessive renal tubular dysgenesis. Peripheral Whole Blood (EDTA) or FTA Card 3–4 Weeks 2,800.00 AED Details
AGTR2 Gene Intellectual Disability (X-linked, MRX88) Genetic Test TEST-5050 LOINC 82203-0 This genetic test analyzes the AGTR2 gene to detect mutations causing X-linked intellectual disability (MRX88). It identifies single-nucleotide varian... Peripheral Whole Blood – EDTA (2 mL) 3 – 4 Weeks 2,800.00 AED Details
AHI1 Gene (Joubert Syndrome Type 3) Genetic Test TEST-4674 LOINC 94425-5 This genetic test evaluates the AHI1 gene for variants associated with Joubert syndrome type 3. Whole Blood (EDTA) 3 to 4 Weeks 2,800.00 AED Details
AKAP1 Gene Mitochondrial Disorders Genetic Test TEST-5186 LOINC 82939-8 This test identifies pathogenic variants in the AKAP1 gene associated with mitochondrial encephalopathies. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
AKR1D1 Gene Bile Acid Synthesis Defect Type 2 Congenital Genetic Test TEST-6029 LOINC 79765-3 This genetic test identifies disease-causing variants in the AKR1D1 gene, confirming a diagnosis of congenital bile acid synthesis defect type 2. Peripheral Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED Details
ALDH2 Gene Acute Alcohol Sensitivity Genetic Test TEST-5950 LOINC 21636-6 This genetic test evaluates functional variants within the ALDH2 gene to determine an individual's capacity to metabolize acetaldehyde, the toxic inte... Peripheral Whole Blood 21–28 Days 2,800.00 AED Details
ALDH4A1 Gene Hyperprolinemia Type 2 Genetic Test TEST-6198 LOINC 21636-6 This genetic test identifies pathogenic variants in the ALDH4A1 gene associated with Hyperprolinemia type 2. Whole Blood (peripheral) 3 to 4 Weeks 2,800.00 AED Details
ALDH6A1 Gene Methylmalonate Semialdehyde Dehydrogenase Deficiency Genetic Test TEST-6049 LOINC 94046-3 This genetic test identifies pathogenic variants in the ALDH6A1 gene associated with methylmalonate semialdehyde dehydrogenase deficiency. Whole Blood 3–4 weeks with interim reports 2,800.00 AED Details
ALG12 Gene Glycosylation Disorder Type 1G Genetic Test TEST-6365 LOINC 92789-1 This genetic test screens the entire ALG12 gene for pathogenic variants associated with Congenital Disorder of Glycosylation Type 1G (ALG12-CDG). It u... Whole Blood (EDTA) – Peripheral Venous Blood 3–4 weeks 2,800.00 AED Details
ALG6 Gene Glycosylation Disorder Type 1C Genetic Test TEST-4462 LOINC 82939-0 This genetic test evaluates the ALG6 gene for mutations associated with Congenital Disorder of Glycosylation Type 1c. Peripheral whole blood (EDTA) or FTA card 3–4 Weeks 2,800.00 AED Details
ALG9 Gene Genetic Test for Congenital Disorder of Glycosylation Type 1L (CDG-IL) TEST-6301 LOINC 81265-0 This genetic test identifies mutations in the ALG9 gene associated with Congenital Disorder of Glycosylation Type 1L (CDG-IL). Whole blood (EDTA), extracted DNA, or FTA card 15–20 working days 2,800.00 AED Details
ALOXE3 Gene Test TEST-4974 LOINC 81247-9 This diagnostic test evaluates the ALOXE3 gene for mutations associated with nonbullous congenital ichthyosiform erythroderma. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
Alpha-1-Antitrypsin (AAT) Phenotype Test TEST-163 LOINC 55014-4 This test evaluates the specific protein variants (Pi types) of Alpha-1-Antitrypsin in the blood. Serum 2–3 weeks after sample receipt by the 7th of the month 2,500.00 AED Details
ALPL Gene Hypophosphatasia (Infantile) NGS Test TEST-6106 LOINC 82163-2 This test identifies mutations in the ALPL gene associated with infantile hypophosphatasia. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
ALS2 Gene (Amyotrophic Lateral Sclerosis Type 2, Juvenile) Genetic Test TEST-3782 LOINC 29527-8 This genetic test evaluates the ALS2 gene for pathogenic variants associated with juvenile-onset amyotrophic lateral sclerosis (JALS). Peripheral Whole Blood (EDTA) or FTA Card 3–4 Weeks 2,800.00 AED Details
ALS2 Gene Primary Lateral Sclerosis, Juvenile Genetic Test TEST-5528 LOINC 90202-2 This test identifies pathogenic variants in the ALS2 gene, which are the definitive cause of juvenile primary lateral sclerosis (JPLS) and infantile-o... Whole Blood (EDTA), Extracted DNA, or FTA Card 21–28 Days (3–4 Weeks) 2,800.00 AED Details
ALX4 Gene (Frontonasal Dysplasia Type 2) Genetic Test TEST-2829 LOINC 87611-7 This test identifies pathogenic variants in the ALX4 gene associated with Frontonasal Dysplasia Type 2 (FND2). It utilizes Next-Generation Sequencing... Whole Blood (Peripheral) or FTA Card Dried Blood Spot 3–4 Weeks 2,800.00 AED Details
AMBN Gene Amelogenesis Imperfecta Type 1F Genetic Test TEST-5407 LOINC 94302-5 This genetic test evaluates the AMBN gene for variants causing Amelogenesis Imperfecta Type 1F. Peripheral whole blood (3–5 mL EDTA) or buccal swab 3–4 weeks from sample receipt 2,800.00 AED Details
AMHR2 Gene (Persistent Mullerian Duct Syndrome Type 2) Genetic Test TEST-3384 LOINC 21659-2 This genetic test identifies pathogenic variants in the AMHR2 gene, confirming a diagnosis of Persistent Mullerian Duct Syndrome type 2 (PMDS) in indi... Peripheral whole blood (EDTA tube) 3–4 weeks 2,800.00 AED Details
AMPD1 Gene Myopathy (Myoadenylate Deaminase Deficiency) Genetic Test TEST-5234 LOINC 51956-7 This genetic test identifies pathogenic variants in the AMPD1 gene associated with myoadenylate deaminase deficiency. Peripheral Whole Blood (EDTA) or Dried Blood Spot (DBS) 3 – 4 Weeks 2,800.00 AED Details
AMPD2 Gene Sequencing for Pontocerebellar Hypoplasia Type 9 Test TEST-5516 LOINC 55233-1 This test identifies pathogenic variants in the AMPD2 gene associated with pontocerebellar hypoplasia type 9. Peripheral whole blood 3–4 weeks 2,800.00 AED Details
AMPD2 Gene SPG63 Genetic Test TEST-5801 LOINC 95035-9 This test detects pathogenic variants in the AMPD2 gene associated with Hereditary Spastic Paraplegia Type 63 (SPG63). Peripheral whole blood (EDTA) or extracted genomic DNA 3-4 weeks from sample receipt 2,800.00 AED Details
ANG Gene Amyotrophic Lateral Sclerosis Type 9 Genetic Test TEST-3817 LOINC 77772-5 This test evaluates the angiogenin (ANG) gene for pathogenic variants associated with Amyotrophic Lateral Sclerosis Type 9 (ALS9). Peripheral whole blood (EDTA) or extracted DNA 3 to 4 weeks 2,800.00 AED Details
ANKRD26 Gene Thrombocytopenia Type 2 Genetic Test TEST-3178 LOINC 21673-3 This genetic test detects pathogenic variants in the ANKRD26 gene associated with inherited thrombocytopenia type 2 (THC2), a bleeding disorder. Peripheral whole blood 3–4 weeks 2,800.00 AED Details
ANKS6 Gene Nephronophthisis Type 16 Genetic Test TEST-3656 LOINC 97728-8 This genetic test identifies pathogenic variants in the ANKS6 gene associated with Nephronophthisis Type 16, a form of juvenile cystic kidney disease. Whole Blood, Extracted DNA, FTA Card 3 – 4 Weeks 2,800.00 AED Details
ANTXR1 Gene Hemangioma Capillary Infantile Genetic Test (NGS) TEST-2080 LOINC 81247-9 This test evaluates the ANTXR1 gene for pathogenic variants associated with capillary infantile hemangioma. Peripheral whole blood, extracted DNA, or FTA card 3–4 Weeks 2,800.00 AED Details
AP2S1 Gene Familial Hypocalciuric Hypercalcemia Type 3 Genetic Test TEST-6183 LOINC 94492-9 This genetic test analyzes the AP2S1 gene for mutations causing Familial Hypocalciuric Hypercalcemia Type 3 (FHH3). It helps differentiate FHH3 from p... Whole blood (EDTA), extracted DNA, or FTA card 3–4 weeks 2,800.00 AED Details
AP4B1 Gene (SPG47) Next-Generation Sequencing (NGS) Genetic Test TEST-5668 LOINC 94243-0 This test identifies mutations in the AP4B1 gene associated with Hereditary Spastic Paraplegia Type 47 (SPG47). Whole blood (3–5 mL in EDTA tube), pre-extracted genomic DNA (≥1 µg at ≥50 ng/µL), or dried blood spot on FTA card 3–4 weeks from sample receipt 2,800.00 AED Details
APOA1 Gene Amyloidosis, Familial Visceral Genetic Test TEST-5987 LOINC 21647-2 This genetic test screens for pathogenic variants in the APOA1 gene associated with familial visceral amyloidosis. Whole Blood (EDTA) or FTA Card 3 to 4 weeks 2,800.00 AED Details
APOB Gene Hypercholesterolaemia Type B (Autosomal Dominant) Genetic Test TEST-6197 LOINC 94046-6 This genetic test identifies pathogenic variants in the APOB gene associated with autosomal dominant familial hypercholesterolaemia type B. Whole blood (EDTA), extracted DNA, or dried blood spot on FTA card 3–4 weeks 2,800.00 AED Details
APOE Genotyping Test TEST-328 LOINC 21637-2 This test evaluates genetic variations in the apolipoprotein E gene (APOE) associated with Alzheimer's disease and cardiovascular risk. Whole blood (EDTA tube, 4 mL) 10 Working Days 4,500.00 AED Details
AR Gene Hypospadias Type 1, X-Linked Genetic Test TEST-3005 LOINC 21636-6 This diagnostic test evaluates the androgen receptor (AR) gene for pathogenic variants associated with X-linked hypospadias type 1. Whole Blood (Lavender Top EDTA Tube) or Dried Blood Spot (FTA Card) 3–4 weeks 2,800.00 AED Details
ARL6 Gene Bardet‑Biedl Syndrome Type 3 Genetic Test TEST-3903 LOINC 51990-0 This test analyzes the ARL6 gene for pathogenic variants associated with Bardet‑Biedl Syndrome Type 3. Whole blood (2‑5 mL in EDTA tube), extracted DNA (≥1 µg), or one drop of blood on FTA card 3‑4 Weeks 2,800.00 AED Details
ARX Gene Mental Retardation, X‑Linked Type 29 Genetic Test TEST-5027 LOINC 94221-1 This test evaluates the ARX gene for pathogenic variants associated with X-linked intellectual disability type 29 and related neurological conditions. Peripheral Whole Blood (1–2 mL EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3 to 4 Weeks 2,800.00 AED Details
ASAH1 Gene Sequencing for Farber Disease (Genetic Test) TEST-6294 LOINC 81201-4 This test sequences the ASAH1 gene to detect pathogenic variants associated with Farber lipogranulomatosis. Whole blood (EDTA tube), extracted DNA, or FTA card 3–4 weeks (with genetic counselling) 2,800.00 AED Details
ASB10 Gene Glaucoma, Open-Angle Type 1F Genetic Test TEST-3669 LOINC 104198-4 This genetic test evaluates the ASB10 gene for pathogenic variants associated with primary open-angle glaucoma (POAG). It identifies individuals at in... Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
ASNS Gene Asparagine Synthetase Deficiency Genetic Test TEST-6017 LOINC 94495-4 This genetic test identifies pathogenic variants in the ASNS gene, confirming asparagine synthetase deficiency. Whole Blood (Peripheral) 3–4 Weeks (expedited possible) 2,800.00 AED Details
ASXL1 Gene Bohring-Opitz Syndrome Genetic Test TEST-3031 LOINC 76699-5 This test sequences the ASXL1 gene to identify pathogenic variants associated with Bohring-Opitz syndrome. Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot 3–4 Weeks 2,800.00 AED Details
ATM Gene Ataxia-Telangiectasia Genetic Test TEST-3868 LOINC 90388-3 This test evaluates the ATM gene for pathogenic variants associated with Ataxia-Telangiectasia and hereditary cancer predisposition. Peripheral Whole Blood (EDTA), FTA Card Dried Blood Spot, or Extracted DNA 3 – 4 Weeks 2,800.00 AED Details
ATP1A2 Gene Alternating Hemiplegia of Childhood Type 1 Genetic Test TEST-3741 LOINC 94536-9 This genetic test identifies pathogenic variants in the ATP1A2 gene, which are the cause of Alternating Hemiplegia of Childhood type 1. Peripheral whole blood (EDTA) 3–4 Weeks 2,800.00 AED Details
ATP1A3 Gene (DYT12) Sequencing Test TEST-4247 LOINC 55233-1 This test evaluates the ATP1A3 gene for pathogenic variants associated with DYT12 dystonia and alternating hemiplegia of childhood (AHC). Whole Blood (EDTA/DNA FTA Card) or Extracted DNA 3–4 Weeks 2,800.00 AED Details
ATP1A3 Gene CAPOS Syndrome Genetic Test TEST-3937 LOINC 79003-5 This test identifies pathogenic variants within the ATP1A3 gene, providing a molecular diagnosis for CAPOS syndrome. Whole Blood (Peripheral Venous) 3–4 weeks 2,800.00 AED Details
ATP2A1 Gene Brody Myopathy Genetic Test TEST-3929 LOINC 21636-6 This test detects pathogenic mutations in the ATP2A1 gene associated with Brody myopathy. Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
ATP6AP2 Gene (Parkinsonism with Spasticity, X-Linked) Genetic Test TEST-5535 LOINC 21663-8 This test identifies pathogenic variants in the ATP6AP2 gene associated with X-linked parkinsonism and spasticity disorder. Whole Blood (EDTA) or Saliva (Oragene DNA kit) 3 to 4 Weeks 2,800.00 AED Details
ATP7B Gene Wilson Disease Genetic Test TEST-5814 LOINC 94351-3 This genetic test identifies pathogenic variants in the ATP7B gene, confirming a diagnosis of Wilson disease. Peripheral Whole Blood or Buccal Swab 3 to 4 Weeks 2,800.00 AED Details
ATPAF2 Gene NGS Test for Mitochondrial Complex V Deficiency (Nuclear Type 1) TEST-5178 LOINC 21615-4 This test identifies pathogenic variants in the ATPAF2 gene, confirming a diagnosis of mitochondrial complex V deficiency, nuclear type 1. Whole blood, extracted DNA, or FTA card 3–4 weeks 2,800.00 AED Details
ATR Gene Cutaneous Telangiectasia and Cancer Syndrome, Familial Genetic Test TEST-2079 LOINC 81262-7 This genetic test identifies pathogenic variants in the ATR gene associated with increased risk for cutaneous telangiectasia and hereditary cancers. Peripheral Whole Blood EDTA, Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
AVPR2 Gene NSIAD Genetic Test TEST-3630 LOINC 91821-6 This diagnostic test evaluates the AVPR2 gene for pathogenic variants associated with nephrogenic syndrome of inappropriate antidiuresis (NSIAD). It u... Peripheral whole blood 3–4 weeks 2,800.00 AED Details
B3GALT6 Gene Sequencing for Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1 (SEMDJL1) Test TEST-2266 LOINC 82906-6 This test identifies pathogenic variants in the B3GALT6 gene associated with spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1). Peripheral whole blood (venous), Buccal swab, or Amniotic fluid (prenatal — hospital extraction only) 3–4 weeks 2,800.00 AED Details
B3GAT3 Gene Genetic Test TEST-2515 LOINC 48019-5 This test identifies pathogenic variants in the B3GAT3 gene associated with linkeropathy type 2. Whole blood (3 mL EDTA), buccal swab, or dried blood spot on FTA card 3–4 weeks 2,800.00 AED Details
B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy Type A13 (MDDGA13) Genetic Test TEST-5171 LOINC 83395-9 This genetic test identifies pathogenic mutations in the B4GAT1 gene, confirming a diagnosis of Muscular Dystrophy-Dystroglycanopathy Type A13 (MDDGA1... Whole Blood (peripheral), Extracted DNA, or Dried Blood Spot (FTA card) 3–4 Weeks 2,800.00 AED Details
B9D1 Gene Meckel Syndrome Type 9 Genetic Test TEST-3683 LOINC 56367-6 This genetic test evaluates the B9D1 gene for pathogenic variants associated with Meckel syndrome type 9. Peripheral Whole Blood (EDTA) or Saliva (Oragene DNA Kit) 3–4 Weeks 2,800.00 AED Details
BBS1 Gene Bardet-Biedl Syndrome Type 1 Genetic Test (NGS) TEST-3920 LOINC 94267-3 This test analyzes the BBS1 gene using Next Generation Sequencing (NGS) to detect pathogenic variants associated with Bardet-Biedl Syndrome Type 1. Whole Blood (Peripheral) or Extracted DNA / FTA Card 3–4 Weeks 2,800.00 AED Details
BBS12 Gene (Bardet-Biedl Syndrome Type 12) Genetic Test TEST-3958 LOINC 103204-9 This test identifies pathogenic variants in the BBS12 gene to confirm a diagnosis of Bardet-Biedl syndrome type 12. Whole Blood (EDTA), Extracted DNA, Dried Blood Spot (FTA Card) 3-4 Weeks 2,800.00 AED Details
BBS5 Gene Bardet-Biedl Syndrome Type 5 Genetic Test TEST-3898 LOINC 55233-1 This test identifies pathogenic variants in the BBS5 gene associated with Bardet-Biedl syndrome type 5. Peripheral blood (EDTA), extracted DNA, or FTA card 3–4 Weeks 2,800.00 AED Details
BCKDHA Gene Maple Syrup Urine Disease Type 1a Genetic Test TEST-6093 LOINC 21629-5 This test identifies pathogenic variants in the BCKDHA gene associated with Maple Syrup Urine Disease Type 1a. Peripheral Whole Blood or FTA Card 3–4 Weeks 2,800.00 AED Details
BCKDK Gene Genetic Test for Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency TEST-6047 LOINC 92737-7 This test identifies genetic mutations in the BCKDK gene associated with branched-chain ketoacid dehydrogenase kinase deficiency. Whole blood, extracted DNA, or dried blood spot (FTA card) 3-4 weeks 2,800.00 AED Details
BCL6 Gene Rearrangement (FISH) Test TEST-1836 LOINC 49583-7 This test detects chromosomal rearrangements of the BCL6 gene using Fluorescence In-Situ Hybridization (FISH). It is a key molecular marker for classi... Bone marrow aspirate or peripheral whole blood 5–6 working days 900.00 AED Details
BCS1L Gene Mitochondrial Complex III Deficiency Genetic Test TEST-5157 LOINC 93336-6 This genetic test evaluates the BCS1L gene for pathogenic variants associated with mitochondrial complex III deficiency. Peripheral whole blood (EDTA) or buccal swab 12–18 Business Days 2,800.00 AED Details
BICD2 Gene Sequencing for Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant Type 2 (NGS) Test TEST-5733 LOINC 95277-6 This diagnostic test evaluates the BICD2 gene for pathogenic variants associated with autosomal dominant lower extremity spinal muscular atrophy type... Blood, Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
BLNK Gene Agammaglobulinemia Type 4 (Autosomal Recessive) Genetic Test TEST-3343 LOINC 94853-7 This genetic test identifies pathogenic mutations in the BLNK gene associated with autosomal recessive agammaglobulinemia. Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card 3–4 Weeks 2,800.00 AED Details
BMP1 Gene Osteogenesis Imperfecta Type 13 Genetic Test TEST-4724 LOINC 93025-1 This test evaluates the BMP1 gene for pathogenic variants associated with Osteogenesis Imperfecta Type 13. Peripheral Whole Blood or Sterile DNA FTA Card 3 to 4 Weeks 2,800.00 AED Details
BMP2 Gene Brachydactyly Type A2 Genetic Test TEST-3047 LOINC 82316-9 This test identifies pathogenic variants within the BMP2 gene associated with autosomal dominant brachydactyly type A2. Peripheral Whole Blood (EDTA) or DNA FTA Card 3–4 Weeks (21–28 Business Days) 2,800.00 AED Details
BMPR1A Gene Hereditary Mixed Polyposis Syndrome Type 2 (HMPS2) Genetic Test TEST-1911 LOINC 21634-2 This genetic test evaluates the BMPR1A gene for pathogenic variants associated with Hereditary Mixed Polyposis Syndrome Type 2 (HMPS2), a condition in... Whole Blood (EDTA) or FTA Card 3–4 Weeks 2,800.00 AED Details
BOLA3 Gene-MMDS2 Genetic Test TEST-5232 LOINC 89588-6 This test analyzes the BOLA3 gene for pathogenic variants associated with Multiple Mitochondrial Dysfunctions Syndrome Type 2 (MMDS2). It uses Next Ge... Peripheral whole blood (EDTA) or FTA card 3–4 Weeks 2,800.00 AED Details
BRAF Gene Cardiofaciocutaneous Syndrome Genetic Test TEST-4363 LOINC 81263-1 This test evaluates the entire coding region of the BRAF gene for pathogenic variants associated with Cardiofaciocutaneous Syndrome (CFC). It uses Nex... Peripheral Whole Blood or Buccal Swab (DNA Extraction) 3–4 Weeks (expedited processing available) 2,800.00 AED Details
BSCL2 Gene Lipodystrophy Generalized Type 2 Genetic Test TEST-6067 LOINC 21659-0 This test evaluates the BSCL2 gene for pathogenic variants associated with congenital generalized lipodystrophy type 2. Peripheral whole blood (3–5 mL EDTA) or FTA card 21–28 calendar days 2,800.00 AED Details
BSCL2 Gene SPG17 Genetic Test TEST-5633 LOINC 21665-9 This test evaluates the BSCL2 gene for pathogenic variants associated with Hereditary Spastic Paraplegia Type 17 (SPG17). Peripheral whole blood (EDTA tube), extracted genomic DNA, or FTA card blood spot 3 to 4 weeks from receipt of specimen 2,800.00 AED Details
BSND Gene (Bartter Syndrome Type 4A) Genetic Test TEST-3870 LOINC 81313-4 This genetic test analyzes the BSND gene for pathogenic variants associated with Bartter Syndrome Type 4A. Whole Blood (EDTA) or Extracted DNA 3 to 4 Weeks 2,800.00 AED Details
BTK Gene (X-Linked Agammaglobulinemia Type 1) Genetic Test TEST-3385 LOINC 55221-2 This genetic test identifies mutations in the BTK gene responsible for X-linked agammaglobulinemia (XLA). Peripheral Whole Blood, Extracted DNA, or FTA Card 3 to 4 Weeks 2,800.00 AED Details
BTK Gene Agammaglobulinemia and Isolated Hormone Deficiency Genetic Test TEST-3351 LOINC 82939-0 This genetic test analyzes the BTK gene to detect mutations associated with X-linked agammaglobulinemia and isolated hormone deficiency. Blood (Peripheral Whole Blood) 14–21 calendar days 2,800.00 AED Details
C15orf41 Gene Congenital Dyserythropoietic Anemia Type 1B (CDAIB) Next‑Generation Sequencing (NGS) Genetic Test TEST-3302 LOINC 21665-5 This test identifies pathogenic variants within the C15orf41 gene associated with Congenital Dyserythropoietic Anemia Type 1B (CDAIB). Whole blood (EDTA), buccal swab, or FTA card 21–28 calendar days (3–4 weeks) 2,800.00 AED Details
C3 Deficiency Genetic Test TEST-5303 LOINC 21643-9 This test identifies inherited mutations in the C3 gene, which are responsible for complement C3 deficiency, a primary immunodeficiency. Blood (EDTA), extracted DNA, or FTA card 3–4 weeks 2,800.00 AED Details
C5 Gene (Complement C5) Deficiency Genetic Test TEST-5343 LOINC 81405-5 This test identifies pathogenic variants in the C5 gene associated with complement component 5 deficiency. Peripheral blood 3 to 4 Weeks 2,800.00 AED Details
CACNA1A Gene Episodic Ataxia Type 2 Genetic Test TEST-4388 LOINC 99803-9 This genetic test evaluates the CACNA1A gene for pathogenic variants associated with episodic ataxia type 2. Whole Blood (EDTA tube), Extracted DNA, One‑drop Blood on FTA Card 3 to 4 Weeks 2,800.00 AED Details
CACNA1D Gene Analysis Test TEST-3566 LOINC 81247-9 This test analyzes the CACNA1D gene for mutations associated with primary aldosteronism and neurological disorders. Whole Blood (EDTA tube) 3–4 Weeks 2,800.00 AED Details
CACNA1H Genetic Susceptibility Testing for Childhood Absence Epilepsy Type 6 Test TEST-4407 LOINC 95857-7 This test identifies pathogenic variants in the CACNA1H gene associated with childhood absence epilepsy type 6. Peripheral Whole Blood (EDTA) 3–4 weeks 2,800.00 AED Details
CACNA1S Gene Malignant Hyperthermia Type 5 Genetic Test TEST-4851 LOINC 94869-5 This genetic test identifies pathogenic variants in the CACNA1S gene associated with susceptibility to malignant hyperthermia type 5 (MHS5). Whole Blood (EDTA) or FTA Card Drop 3 to 4 Weeks 2,800.00 AED Details
CACNA1S Gene: Thyrotoxic Periodic Paralysis Type 1 Genetic Test TEST-5823 LOINC 48019-1 This genetic test identifies pathogenic variants in the CACNA1S gene associated with thyrotoxic periodic paralysis type 1. Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 weeks 2,800.00 AED Details
CAMTA1 Gene Genetic Test for Non-Progressive Cerebellar Ataxia with Intellectual Disability TEST-3973 LOINC 94222-6 This test evaluates the CAMTA1 gene for pathogenic variants associated with non-progressive cerebellar ataxia and intellectual disability. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
CARD11 Gene B-Cell Expansion with NF-κB and T-Cell Anergy Genetic Test TEST-5364 LOINC 55217-0 This genetic test evaluates the entire CARD11 gene for variants associated with B-cell expansion, NF-κB pathway dysregulation, and T-cell anergy. Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot 3–4 Weeks 2,800.00 AED Details
CASR Gene Hyperparathyroidism, Neonatal Severe (Genetic Test) TEST-3742 LOINC 51966-2 This genetic test identifies pathogenic mutations within the CASR gene, the primary cause of neonatal severe primary hyperparathyroidism (NSHPT). Whole Blood (Peripheral) or Dried Blood Spot (FTA Card) 3–4 Weeks (Expedited Available) 2,800.00 AED Details
CAST Gene Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads Genetic Test TEST-4657 LOINC 83519-7 This test analyzes the CAST gene for mutations associated with hereditary peeling skin syndrome. Whole Blood or Buccal Swab 3–4 Weeks 2,800.00 AED Details
CAV3 Gene Distal Myopathy (Tateyama Type) Genetic Test TEST-5254 LOINC 21636-6 This test identifies pathogenic variants in the CAV3 gene associated with distal myopathy, Tateyama type. Peripheral whole blood (EDTA) or extracted DNA or FTA card 3–4 weeks 2,800.00 AED Details
CBL Gene Genetic Test for Noonan Syndrome‑like Disorder with or without Juvenile Myelomonocytic Leukemia TEST-2482 LOINC 89539-1 This test evaluates the entire coding region and splice sites of the CBL gene for germline mutations. Peripheral whole blood (3–5 mL in EDTA tube) or FTA card dried blood spot 3–4 weeks 2,800.00 AED Details
CBLIF Gene Intrinsic Factor Deficiency Genetic Test TEST-3228 LOINC 55231-3 This genetic test identifies pathogenic variants in the CBLIF gene associated with intrinsic factor deficiency and potential pernicious anemia. Peripheral whole blood, extracted DNA, or dried blood spot (FTA card) 3–4 Weeks 2,800.00 AED Details
CBS Gene Homocystinuria due to Cystathionine Beta‑Synthase Deficiency Genetic Test TEST-4001 LOINC 21636-6 This genetic test identifies disease-causing variants in the CBS gene, confirming a diagnosis of classic homocystinuria. Whole Blood (EDTA), Extracted DNA, or FTA Card 3 to 4 weeks 2,800.00 AED Details
CD2AP Gene Sequencing (Focal Segmental Glomerulosclerosis Type 3) DNA Test TEST-3865 LOINC 82939-0 This test evaluates the CD2AP gene for pathogenic variants associated with autosomal dominant Focal Segmental Glomerulosclerosis Type 3 (FSGS3). Whole blood, extracted DNA, or FTA card dried blood spot 3–4 weeks 2,800.00 AED Details
CD3G Gene Cone-Rod Dystrophy Type 17 DNA Test (NGS) TEST-3569 LOINC 81290-1 This test detects pathogenic or likely pathogenic variants in the CD3G gene associated with cone-rod dystrophy type 17. Peripheral Blood (FTA Card) 3–4 Weeks 2,800.00 AED Details
CD46 Gene (Atypical Hemolytic Uremic Syndrome Type 2) Susceptibility Genetic Test TEST-3802 LOINC 81269-9 This genetic test identifies pathogenic variants in the CD46 gene associated with atypical hemolytic uremic syndrome type 2. Peripheral whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
CDKL5 Gene Analysis for Early Infantile Epileptic Encephalopathy Type 2 (NGS) Test TEST-4299 LOINC 97515-4 This test detects pathogenic variants in the CDKL5 gene associated with Early Infantile Epileptic Encephalopathy Type 2 (EIEE2). Peripheral whole blood (EDTA tube) or FTA card / DNA 3 – 4 Weeks 2,800.00 AED Details
CDKN1C Gene Beckwith-Wiedemann Syndrome Genetic Test TEST-2139 LOINC 94233-2 This test sequences the CDKN1C gene to detect mutations associated with Beckwith-Wiedemann syndrome. Peripheral Whole Blood (EDTA) or Extracted DNA 3 to 4 Weeks 2,800.00 AED Details
CDKN2A Gene Familial Melanoma and Neural System Tumor Syndrome Genetic Test (NGS) TEST-2025 LOINC 21648-9 This genetic test evaluates the CDKN2A gene for mutations associated with increased risk of familial melanoma and neural system tumors. Whole Blood (Peripheral), Saliva, or FTA Card (Dried Blood Spot) 3–4 Weeks 2,800.00 AED Details
CEBPA Full Gene Mutation Analysis Test TEST-1734 LOINC 101543-4 This test identifies somatic mutations in the CEBPA gene, which are critical prognostic markers in acute myeloid leukaemia (AML). Peripheral Blood 5–6 working days from sample receipt 1,200.00 AED Details
CentoIEM Genetic Test TEST-3675 LOINC 94474-4 This test evaluates over 1,200 genes for variants associated with inherited neurological and inborn-error-of-metabolism disorders using Next Generatio... Whole Blood, Dried Blood Spot (FTA Card), or Extracted DNA 3–4 Weeks 3,000.00 AED Details
CEP152 Gene Seckel Syndrome Type 5 Genetic Test TEST-2342 LOINC 104207-2 This test evaluates the CEP152 gene for pathogenic variants associated with Seckel syndrome type 5. Whole Blood (EDTA), Extracted DNA, or FTA Card 3 to 4 Weeks 2,800.00 AED Details
CEP290 Gene Bardet-Biedl Syndrome Type 14 Genetic Test TEST-3954 LOINC 81247-9 This genetic test identifies pathogenic variants in the CEP290 gene associated with Bardet-Biedl syndrome. Peripheral whole blood 3–4 weeks from sample receipt 2,800.00 AED Details
CEP290 Gene Sequencing Test for Bardet-Biedl Syndrome Type 14 TEST-3505 LOINC 82939-0 This test identifies pathogenic variants in the CEP290 gene, which are associated with Bardet-Biedl syndrome type 14, a rare genetic disorder. Whole Blood, Extracted DNA, or FTA Card 21–28 Business Days 2,800.00 AED Details
CETP Gene Hyperalphalipoproteinemia Genetic Test TEST-6275 LOINC 21776-5 This genetic test evaluates the CETP gene for variants associated with familial hyperalphalipoproteinemia (elevated HDL-C). It identifies mutations th... Peripheral Whole Blood, Saliva, or FTA Card Spot 3–4 Weeks 2,800.00 AED Details
CFAP298 Gene Primary Ciliary Dyskinesia Type 26 Genetic Test TEST-5553 LOINC 21636-6 This genetic test identifies pathogenic variants in the CFAP298 gene associated with primary ciliary dyskinesia type 26 (PCD26). Whole blood (EDTA), Extracted DNA, FTA card 3–4 weeks 2,800.00 AED Details
CFH Gene Hemolytic Uremic Syndrome Genetic Test TEST-3820 LOINC 21661-6 This test evaluates the CFH gene for mutations associated with atypical hemolytic uremic syndrome (aHUS). Peripheral whole blood (EDTA) or buccal swab 3–4 weeks 2,800.00 AED Details
CFL1 Gene (Corticobasal Degeneration) Genetic Test TEST-4107 LOINC 21636-6 This test evaluates the CFL1 gene for pathogenic variants associated with corticobasal degeneration. Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot 3–4 Weeks 2,800.00 AED Details
CHAT Gene Congenital Myasthenic Syndrome Genetic Test TEST-5293 LOINC 95810-1 This genetic test analyzes the CHAT gene for mutations associated with congenital myasthenic syndrome. Peripheral Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED Details
CHEK2 Gene Li‑Fraumeni Syndrome Type 2 Genetic Test TEST-2008 LOINC 92930-2 This genetic test evaluates the CHEK2 gene for variants associated with an increased risk of developing certain cancers, particularly hereditary breas... Peripheral Whole Blood or Dried Blood Spot (FTA Card) 21–28 Days (3–4 Weeks) 2,800.00 AED Details
CHN1 Gene Sequencing for Duane Retraction Syndrome Test TEST-3602 LOINC 81247-9 This test analyzes the CHN1 gene for pathogenic variants associated with Duane retraction syndrome. Peripheral whole blood (5 ml in EDTA tube) or saliva (Oragene kit) 3 to 4 Weeks 2,800.00 AED Details
CHRM3 Gene (Prune Belly Syndrome) Genetic Test TEST-2395 LOINC 86654-1 This test evaluates the CHRM3 gene for pathogenic variants associated with Prune Belly Syndrome. Whole Blood, Extracted DNA, or FTA Card 3–4 weeks 2,800.00 AED Details
CHRNB2 Gene Epilepsy (Nocturnal Frontal Lobe Type 3) Genetic Test TEST-4436 LOINC 94862-1 This genetic test identifies pathogenic variants in the CHRNB2 gene associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). EDTA whole blood or FTA card 3–4 weeks (expedited clinical reporting) 2,800.00 AED Details
CHRND Gene Lethal Multiple Pterygium Syndrome Genetic Test TEST-4785 LOINC 55225-7 This test evaluates the CHRND gene for pathogenic variants associated with lethal multiple pterygium syndrome (LMPS). It identifies mutations that cau... Peripheral Blood (Whole Blood) 3–4 weeks 2,800.00 AED Details
CIITA Gene Test TEST-5359 LOINC 81247-8 This genetic test evaluates the CIITA gene for mutations causing Bare Lymphocyte Syndrome Type II (BLS II), a severe primary immunodeficiency. Whole Blood (EDTA) or FTA Card (finger-prick for paediatric) 21–28 Calendar Days (Expedited 14 days available) 2,800.00 AED Details
CISD2 Gene (Wolfram Syndrome Type 2) Genetic Test TEST-5468 LOINC 82939-0 This test identifies pathogenic variants in the CISD2 gene associated with Wolfram syndrome type 2. Peripheral Whole Blood (EDTA) 21–28 calendar days 2,800.00 AED Details
CITED2 Gene Ventricular Septal Defect Type 2 Genetic Test TEST-4084 LOINC 81677-8 This genetic test evaluates the CITED2 gene for variants associated with Ventricular Septal Defect Type 2. Whole Blood (Venipuncture), Extracted DNA, or FTA Card Blood Spot 3 to 4 Weeks 2,800.00 AED Details
CLCF1 Gene Cold-Induced Sweating Syndrome Type 2 Genetic Test TEST-2947 LOINC 101578-7 This test identifies pathogenic variants in the CLCF1 gene associated with Cold-Induced Sweating Syndrome Type 2. Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
CLCNKA Gene Sequencing for Bartter Syndrome Type 4B (Genetic Test) TEST-3914 LOINC 94257-2 This test identifies pathogenic variants in the CLCNKA gene associated with Bartter syndrome type 4B. Whole Blood (EDTA) or Extracted DNA or FTA Card 3–4 Weeks 2,800.00 AED Details
CLN8 Gene Neuronal Ceroid Lipofuscinosis Type 8 (NCL8) Genetic Test TEST-6092 LOINC 94233-3 This genetic test evaluates the CLN8 gene for pathogenic variants associated with Neuronal Ceroid Lipofuscinosis type 8 (NCL8). Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot 21–28 Business Days 2,800.00 AED Details
CNNM2 Gene Hypomagnesemia Type 6 Genetic Test TEST-6168 LOINC 82319-8 This test detects pathogenic variants in the CNNM2 gene associated with Hypomagnesemia Type 6, a rare autosomal dominant disorder affecting magnesium... Whole Blood (EDTA), Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
CNTN1 Gene Genetic Test (Compton-North Congenital Myopathy) TEST-4090 LOINC 56267-3 This test identifies pathogenic variants in the CNTN1 gene, confirming the genetic basis for Compton-North congenital myopathy. Peripheral whole blood (3–5 mL in EDTA tube) 3–4 weeks 2,800.00 AED Details
CNTNAP2 Gene Cortical Dysplasia-Focal Epilepsy Syndrome Genetic Test TEST-4150 LOINC 78025-5 This test identifies pathogenic variants within the CNTNAP2 gene associated with cortical dysplasia-focal epilepsy syndrome. Peripheral blood (3–5 mL EDTA), FTA card spot, or extracted DNA (≥1 µg) 3–4 weeks 2,800.00 AED Details
COCH Gene Deafness, Autosomal Dominant Type 9 Genetic Test TEST-5669 LOINC 21636-6 This test identifies pathogenic variants in the COCH gene associated with autosomal dominant non-syndromic hearing loss type 9 (DFNA9). It uses Next G... Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot 3–4 Weeks 2,800.00 AED Details
COG1 Gene Glycosylation Disorder Type 2g (CDG-2g) Genetic Test TEST-4553 LOINC 81247-4 This genetic test identifies pathogenic variants in the COG1 gene associated with congenital disorder of glycosylation type IIg. Peripheral whole blood (EDTA) or Dry Blood Spot (DBS) 3–4 Weeks 2,800.00 AED Details
COG5 Gene Glycosylation Disorder Type 2I Genetic Test TEST-6272 LOINC 83240-0 This test analyzes the COG5 gene for pathogenic variants associated with Congenital Disorder of Glycosylation type IIi (CDG-2I). It uses Next Generati... Peripheral whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) 3 – 4 weeks 2,800.00 AED Details
COG6 Gene Glycosylation Disorder Type 3 Genetic Test TEST-6263 LOINC 94146-5 This genetic test identifies pathogenic variants in the COG6 gene, which are responsible for Congenital Disorder of Glycosylation Type 3. Whole Blood (EDTA), FTA Card, Extracted DNA 3–4 Weeks 2,800.00 AED Details
COL11A2 Gene Fibrochondrogenesis Type 2 Genetic Test TEST-5075 LOINC 21698-3 This genetic test evaluates the COL11A2 gene for pathogenic variants associated with Fibrochondrogenesis Type 2. Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) 3–4 weeks 2,800.00 AED Details
COL12A1 Gene Bethlem Myopathy Type 2 Genetic Test TEST-3925 LOINC 92807-5 This test evaluates the COL12A1 gene for pathogenic variants associated with Bethlem myopathy type 2. Whole Blood, Buccal Swab, or FTA Card 3–4 Weeks 2,800.00 AED Details
COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 Genetic Test TEST-5936 LOINC 74834-3 This genetic test detects pathogenic variants in the COL12A1 gene associated with Ullrich congenital muscular dystrophy type 2. Peripheral whole blood, extracted DNA, or FTA card 3–4 weeks 2,800.00 AED Details
COL17A1 Gene Epidermolysis Bullosa, Junctional Genetic Test TEST-5154 LOINC 82160-5 This test evaluates the COL17A1 gene for mutations associated with junctional epidermolysis bullosa (JEB). It uses Next-Generation Sequencing (NGS) to... Peripheral Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED Details
COL2A1 Gene Osteoarthritis with Mild Chondrodysplasia Genetic Test TEST-4741 LOINC 101454-2 This test evaluates the COL2A1 gene for pathogenic variants associated with early-onset osteoarthritis and mild chondrodysplasia. Whole Blood, Extracted DNA, or FTA Card (Dried Blood Spot) 3-4 weeks 2,800.00 AED Details
COL2A1 Gene Otospondylomegaepiphyseal Dysplasia Genetic Test TEST-2466 LOINC 81305-2 This test identifies pathogenic variants within the COL2A1 gene associated with otospondylomegaepiphyseal dysplasia (OSMED) and related type II collag... Whole blood (2–3 mL EDTA) or dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
COL2A1 Gene Spondyloperipheral Dysplasia Genetic Test TEST-2276 LOINC 81257-1 This genetic test identifies pathogenic variants within the COL2A1 gene, which are associated with spondyloperipheral dysplasia. Whole Blood, Extracted DNA, or FTA Card 3 to 4 Weeks 2,800.00 AED Details
COL4A1 Gene Porencephaly, Familial Genetic Test TEST-2402 LOINC 49990-2 This test evaluates the COL4A1 gene for pathogenic variants associated with familial porencephaly and cerebral small vessel disease. Peripheral Whole Blood, FTA Card, or Extracted DNA 3 to 4 Weeks 2,800.00 AED Details
COL5A1 Gene Ehlers-Danlos Syndrome Type 1/2 Genetic Test TEST-5170 LOINC 90207-0 This test identifies pathogenic variants in the COL5A1 gene to confirm a molecular diagnosis of Classical Ehlers-Danlos Syndrome (Type 1/2). Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card 3 to 4 Weeks 2,800.00 AED Details
COL6A3 Gene DYT27 Genetic Test TEST-4261 LOINC 79371-8 This test evaluates the entire coding region of the COL6A3 gene for pathogenic variants associated with autosomal dominant dystonia type 27 (DYT27). Whole Blood (EDTA), Extracted DNA (≥1 µg), or FTA Card Blood Spot 3–4 weeks 2,800.00 AED Details
Combined Whole Exome Sequencing (WES) and Chromosomal Microarray (CMA) Test TEST-442 LOINC 81247-2 This test evaluates the entire protein-coding region of the genome (exome) and chromosomal copy number variations (CNVs) simultaneously. Peripheral whole blood (EDTA) – 3–5 mL 14–21 calendar days 5,000.00 AED Details
COMP Gene Epiphyseal Dysplasia, Multiple, Type 1 Genetic Test TEST-5132 LOINC 21567-2 This genetic test identifies pathogenic variants in the COMP gene associated with Multiple Epiphyseal Dysplasia Type 1 (MED1). Whole blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3 to 4 weeks 2,800.00 AED Details
COMP Gene Pseudoachondroplasia Genetic Test TEST-4641 LOINC 21635-2 This test evaluates the entire COMP gene for mutations associated with pseudoachondroplasia. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
Congenital Adrenal Hyperplasia (CAH) Full Gene Sequence Analysis Test TEST-1750 LOINC 21631-4 This test performs full-gene sequencing of the CYP21A2 gene to identify mutations causing Congenital Adrenal Hyperplasia (CAH). Peripheral whole blood (3–5 mL in EDTA lavender-top tube); alternative: extracted genomic DNA (2 µg minimum) 4–5 weeks 2,000.00 AED Details
Connexin 26 Mutation Detection Test TEST-706 LOINC 21679-8 This test identifies pathogenic variants in the GJB2 gene, the most common genetic cause of congenital sensorineural hearing loss. Whole blood (4 mL lavender-top EDTA tube) 13 working days (sample by 11 am Saturday) 1,800.00 AED Details
Connexin 30 (GJB6) Mutation Detection Test TEST-700 LOINC 21663-7 This test detects pathogenic variants in the GJB6 gene, a common cause of congenital deafness. Whole blood 10 working days 1,100.00 AED Details
COQ8A Gene Spinocerebellar Ataxia Type 9 (Autosomal Recessive) Genetic Test TEST-5811 LOINC 82939-0 This genetic test identifies pathogenic variants in the COQ8A gene associated with autosomal recessive spinocerebellar ataxia type 9 (SCAR9). Whole blood (EDTA) or FTA card (finger-prick) 3–4 weeks 2,800.00 AED Details
COQ8B Gene Nephrotic Syndrome Type 9 Genetic Testing (NGS) Test TEST-3584 LOINC 21633-8 This test detects pathogenic variants in the COQ8B gene associated with steroid-resistant nephrotic syndrome. Peripheral whole blood (5 mL EDTA) 3–4 weeks 2,800.00 AED Details
CORIN Gene Preeclampsia/Eclampsia Type 5 Genetic Test TEST-3421 LOINC 95382-6 This genetic test identifies pathogenic variants in the CORIN gene associated with an increased risk of developing severe, early-onset preeclampsia ty... Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
COX10 Gene Genetic Test for Mitochondrial Encephalopathy with Proximal Renal Tubulopathy TEST-4312 LOINC 93353-6 This genetic test evaluates the COX10 gene for pathogenic variants associated with mitochondrial encephalopathy and proximal renal tubulopathy. Peripheral Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED Details
CPT1A Gene (Carnitine Palmitoyltransferase 1A Deficiency) Genetic Test TEST-6160 LOINC 94706-2 This genetic test identifies pathogenic variants in the CPT1A gene, which are responsible for carnitine palmitoyltransferase 1A deficiency, a fatty ac... Whole Blood (EDTA), Buccal Swab, or DNA on FTA Card 3–4 Weeks 2,800.00 AED Details
CPT2 Gene Carnitine Palmitoyltransferase II Deficiency (Lethal Neonatal) Genetic Test TEST-6065 LOINC 101675-7 This genetic test identifies pathogenic variants in the CPT2 gene associated with lethal neonatal carnitine palmitoyltransferase II deficiency. Whole Blood (Venous), Extracted DNA, Dried Blood Spot on FTA Card 3–4 Weeks 2,800.00 AED Details
CRELD1 Gene Sequencing for Atrioventricular Septal Defect with Heterotaxy Syndrome Test TEST-3069 LOINC 94476-3 This test detects pathogenic variants in the CRELD1 gene associated with autosomal dominant atrioventricular septal defect (AVSD) and heterotaxy syndr... Whole Blood, Extracted DNA, FTA Card 3–4 Weeks 2,800.00 AED Details
CRLF1 Gene Cold-Induced Sweating Syndrome (CISS) Genetic Test TEST-2954 LOINC 81247-7 This test uses next-generation sequencing to detect pathogenic variants in the CRLF1 gene, confirming a diagnosis of Cold-Induced Sweating Syndrome. Whole blood (EDTA tube), extracted DNA, or FTA card (dried blood spot) 3–4 weeks from sample receipt 2,800.00 AED Details
CRYBB1 Gene Cataract Type 17 Genetic Testing Test TEST-3529 LOINC 82709-1 This test identifies pathogenic variants within the CRYBB1 gene associated with congenital or early-onset cataract type 17. Peripheral Whole Blood (3 mL in EDTA tube) or FTA Card 3–4 Weeks 2,800.00 AED Details
CRYBB3 Gene Cataract, Autosomal Recessive Congenital Nuclear Type 2 Genetic Test TEST-3516 LOINC 21636-6 This test identifies pathogenic variants within the CRYBB3 gene associated with Autosomal Recessive Congenital Nuclear Cataract Type 2. Whole Blood (Peripheral) or FTA Card 3 to 4 Weeks 2,800.00 AED Details
CSF1 Gene Osteogenesis and Dental Anomalies Genetic Test TEST-4721 LOINC 21684-6 This test evaluates the CSF1 gene for pathogenic variants associated with autosomal recessive osteopetrosis, dental anomalies, and pigmentation disord... Peripheral whole blood (venous) or dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
CSF2RA Gene Surfactant Metabolism Dysfunction Type 4 Genetic Test TEST-5799 LOINC 81303-4 This genetic test identifies pathogenic variants in the CSF2RA gene associated with Surfactant Metabolism Dysfunction Type 4 (SMDP4). Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA Card) 3–4 weeks 2,800.00 AED Details
CST3 Gene Cerebral Amyloid Angiopathy Genetic Test TEST-4027 LOINC 94218-7 This test identifies pathogenic variants in the CST3 gene associated with hereditary cerebral amyloid angiopathy (CAA). Peripheral whole blood (EDTA), extracted genomic DNA, or FTA card spot 21–28 calendar days 2,800.00 AED Details
CSTB Gene (Unverricht-Lundborg Disease) Genetic Test TEST-5846 LOINC 21665-4 This test identifies mutations in the CSTB gene associated with Unverricht-Lundborg disease (EPM1), a form of progressive myoclonic epilepsy. Peripheral whole blood (EDTA) 3–4 weeks 2,800.00 AED Details
CTH Gene Cystathioninuria NGS Test TEST-6295 LOINC 81247-7 This diagnostic test evaluates the CTH gene for pathogenic variants associated with cystathioninuria. Whole Blood (EDTA), Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
CTLA4 Gene Lymphoproliferative Syndrome, Autoimmune, Type 5 Genetic Test TEST-3217 LOINC 82175-0 This test evaluates the CTLA4 gene for pathogenic variants associated with autoimmune lymphoproliferative syndrome type 5 (ALPS5). It provides a defin... Peripheral Whole Blood 3 to 4 Weeks 2,800.00 AED Details
CTNNA2 Gene Neuronal Migration Disorder Genetic Test TEST-5445 LOINC 21636-6 This test identifies genetic variants in the CTNNA2 gene linked to neuronal migration disorders. Blood, FTA Card, Extracted DNA 21–28 Calendar Days 2,800.00 AED Details
CTRC Gene Pancreatitis Genetic Test TEST-3612 LOINC 21656-6 This test evaluates the coding region of the CTRC gene for pathogenic variants associated with hereditary pancreatitis. Peripheral whole blood, extracted DNA, or dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
CUBN Gene Megaloblastic Anemia Type 1 (Finnish Type) Genetic Test TEST-3208 LOINC 94122-7 This genetic test identifies pathogenic variants in the CUBN gene associated with Imerslund-Gräsbeck syndrome, a cause of vitamin B12 malabsorption. Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 weeks 2,800.00 AED Details
CYCS Gene Thrombocytopenia Type 4 Genetic Test TEST-3173 LOINC 81499-9 This test evaluates the CYCS gene for pathogenic variants associated with congenital thrombocytopenia type 4. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
CYP11B2 Gene Sequencing for Congenital Hypoaldosteronism (CMO II Deficiency) Test TEST-6191 LOINC 82939-0 This test identifies pathogenic variants in the CYP11B2 gene associated with congenital hypoaldosteronism (CMO II deficiency). Whole Blood (EDTA) or Buccal Swab 3–4 Weeks 2,800.00 AED Details
CYP1A2 Gene Cytochrome P450 Deficiency Genetic Test TEST-6304 LOINC 69900-6 This genetic test evaluates the CYP1A2 gene for variants that affect drug metabolism capacity. Whole Blood (peripheral) or Dry Blood Spot on FTA card 3–4 weeks 2,800.00 AED Details
CYP7B1 Gene Bile Acid Synthesis Defect Type 3 Congenital Genetic Test TEST-6135 LOINC 92791-8 This test identifies genetic variants in the CYP7B1 gene associated with congenital bile acid synthesis defect type 3. Whole Blood (2–3 mL EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
CYP7B1 Gene SPG5A Genetic Test TEST-5690 LOINC 81205-3 This test identifies pathogenic variants in the CYP7B1 gene, which are responsible for hereditary spastic paraplegia type 5A (SPG5A). Whole Blood (EDTA), Extracted DNA, or FTA Card 3 to 4 Weeks 2,800.00 AED Details
D2HGDH Gene Next‑Generation Sequencing (NGS) Test for D‑2‑Hydroxyglutaric Aciduria Type 1 TEST-6208 LOINC 78014-4 This test evaluates the D2HGDH gene for pathogenic variants associated with D‑2‑hydroxyglutaric aciduria type 1. Blood, Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
DBH Gene (Dopamine Beta-Hydroxylase) Deficiency Genetic Test TEST-4209 LOINC 94086-1 This genetic test evaluates the dopamine beta-hydroxylase (DBH) gene for variants associated with DBH deficiency, a rare disorder affecting autonomic... Peripheral Whole Blood (EDTA) or FTA Card 21–28 Business Days 2,800.00 AED Details
DCPS Gene Al-Raqad Syndrome Genetic Test TEST-3732 LOINC 81329-1 This test provides a definitive molecular diagnosis for Al-Raqad syndrome by sequencing the entire DCPS gene. Peripheral Whole Blood (EDTA) • Buccal Swab 3–4 Weeks 2,800.00 AED Details
DDX3X Gene X‑Linked Intellectual Disability Type 102 Genetic Test TEST-5009 LOINC 94222-4 This genetic test analyzes the DDX3X gene to detect pathogenic variants associated with X-linked intellectual disability type 102. Whole blood (EDTA), buccal swab, or extracted DNA 3–4 weeks (STAT 7 days available) 2,800.00 AED Details
DECR1 Gene Analysis (2,4-Dienoyl-CoA Reductase 1) Genetic Test TEST-6007 LOINC 21636-6 This test detects pathogenic variants in the DECR1 gene associated with mitochondrial fatty acid oxidation disorders. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
DEPDC5 Genetic Test for Familial Focal Epilepsy with Variable Foci TEST-4342 LOINC 96609-6 This test identifies pathogenic variants in the DEPDC5 gene associated with familial focal epilepsy with variable foci. Peripheral Blood, Extracted DNA, or Dried Blood Spot (FTA card) 3–4 Weeks 2,800.00 AED Details
DHH Gene Mutation Analysis for 46,XY Gonadal Dysgenesis & Minifascicular Neuropathy Test TEST-3721 LOINC 50396-0 This diagnostic test evaluates the DHH gene for pathogenic variants associated with 46,XY gonadal dysgenesis and minifascicular neuropathy. Peripheral Whole Blood, Serum, or Plasma 3-4 Weeks 2,800.00 AED Details
DHTKD1 Gene Analysis (2-Aminoadipic 2-Oxoadipic Aciduria) Test TEST-6010 LOINC 81261-8 This test identifies pathogenic variants in the DHTKD1 gene associated with 2-aminoadipic 2-oxoadipic aciduria. Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
DLAT Gene (Pyruvate Dehydrogenase E2 Deficiency) Genetic Test TEST-5907 LOINC 94248-9 This genetic test identifies pathogenic variants in the DLAT gene associated with Pyruvate Dehydrogenase E2 Deficiency. Peripheral Whole Blood / FTA Card 3–4 Weeks 2,800.00 AED Details
DLX3 Gene Trichodentoosseous Syndrome Genetic Test TEST-4508 LOINC 21637-8 This test evaluates the DLX3 gene for mutations associated with Trichodentoosseous Syndrome (TDO). It identifies pathogenic variants causing hair, den... Peripheral Whole Blood or FTA Card Spot 3–4 Weeks 2,800.00 AED Details
DLX5 Gene Split-Hand/Foot Malformation Type 1 with Sensorineural Hearing Loss Genetic Test TEST-2275 LOINC 93711-0 This genetic test evaluates the DLX5 gene for pathogenic mutations linked to Split-Hand/Foot Malformation Type 1 and sensorineural hearing loss. Whole Blood (EDTA), Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
DMD/BMD Mutation Screening (26 Exons) Test TEST-1636 LOINC 87762-1 This test screens for common deletions and duplications within the 26 exons of the DMD gene, associated with Duchenne and Becker muscular dystrophies. Amniotic fluid or chorionic villus sampling 4–5 business days 1,400.00 AED Details
DMGDH Gene (Dimethylglycine Dehydrogenase Deficiency) Genetic Test TEST-6346 LOINC 94558-4 This genetic test identifies pathogenic variants in the DMGDH gene associated with dimethylglycine dehydrogenase deficiency. Whole blood (EDTA), DNA FTA Card, or Extracted DNA (peripheral blood) 3 – 4 Weeks 2,800.00 AED Details
DMP1 Gene Autosomal Recessive Hypophosphatemic Rickets Type 1 (ARHR1) Genetic Test TEST-5028 LOINC 79692-0 This test evaluates the DMP1 gene for mutations associated with Autosomal Recessive Hypophosphatemic Rickets Type 1 (ARHR1). Whole Blood (EDTA) or Extracted DNA or FTA Card 3–4 Weeks 2,800.00 AED Details
DNAH9 Gene Primary Ciliary Dyskinesia Genetic Test (NGS) TEST-5481 LOINC 81247-7 This test evaluates the DNAH9 gene for mutations associated with primary ciliary dyskinesia (PCD). It identifies variations, including copy number cha... Peripheral Whole Blood, Extracted DNA, or Buccal Swab 3 – 4 Weeks 2,800.00 AED Details
DNAJC19 Gene Dilated Cardiomyopathy with Ataxia Genetic Test TEST-4284 LOINC 94224-6 This genetic test evaluates the DNAJC19 gene for variants associated with dilated cardiomyopathy and cerebellar ataxia. Peripheral Whole Blood (EDTA tube) 10–14 working days 2,800.00 AED Details
DNM2 Gene Centronuclear Myopathy Type 1 Genetic Test TEST-3950 LOINC 81307-5 This genetic test identifies pathogenic variants in the DNM2 gene associated with centronuclear myopathy type 1. Peripheral whole blood or FTA card 3–4 weeks from sample receipt 2,800.00 AED Details
DNMT1 Gene Autosomal Recessive Cerebellar Ataxia with Deafness and Narcolepsy Genetic Test TEST-3966 LOINC 81226-8 This test identifies pathogenic variants in the DNMT1 gene associated with autosomal recessive cerebellar ataxia, deafness, and narcolepsy. Peripheral whole blood (EDTA), saliva (Oragene), or extracted DNA 3–4 Weeks (Rapid option available upon request) 2,800.00 AED Details
DOK7 Gene Myasthenic Syndrome, Congenital, Type 10 Genetic Test TEST-5211 LOINC 81431-6 This genetic test evaluates the DOK7 gene for pathogenic variants associated with Congenital Myasthenic Syndrome Type 10 (CMS10). Whole Blood (4 mL) or Dried Blood Spot 3–4 Weeks 2,800.00 AED Details
DPYS Gene Dihydropyrimidinuria Genetic Test TEST-6246 LOINC 21639-8 This genetic test detects pathogenic variants in the DPYS gene associated with dihydropyrimidinuria. Peripheral Blood, Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
DRD5 Gene ADHD Genetic Test TEST-3871 LOINC 21638-5 This test analyzes the DRD5 gene for variants associated with ADHD susceptibility and treatment response using Next Generation Sequencing. Peripheral Whole Blood (Venipuncture or Finger-prick) 3 to 4 Weeks 2,800.00 AED Details
DSP Gene (Skin Fragility-Woolly Hair Syndrome) Genetic Test TEST-4552 LOINC 81247-9 This test evaluates the entire DSP gene for mutations associated with skin fragility-woolly hair syndrome and related cardiomyopathy. Whole Blood / DNA (Peripheral Venipuncture or FTA Card) 3–4 Weeks 2,800.00 AED Details
DSP Gene Keratosis Palmoplantaris Striata Type 2 Genetic Test TEST-4838 LOINC 79691-4 This genetic test analyzes the DSP gene to detect mutations associated with Keratosis Palmoplantaris Striata Type 2. Whole Blood, DNA FTA Card, Extracted DNA 3 to 4 Weeks 2,800.00 AED Details
DSP Gene NGS Test for Dilated Cardiomyopathy, Woolly Hair, Keratoderma & Tooth Agenesis TEST-4240 LOINC 21636-6 This diagnostic test evaluates the entire coding region of the DSP gene for pathogenic variants associated with Carvajal syndrome. Peripheral whole blood (EDTA), extracted DNA, or FTA card 3–4 weeks 2,800.00 AED Details
DSPP Gene Dentin Dysplasia Type 2 Genetic Test TEST-5261 LOINC 81335-2 This test analyzes the DSPP gene for pathogenic variants associated with hereditary dentin disorders like Dentin Dysplasia Type 2 and Dentinogenesis I... Whole Blood (EDTA), Extracted DNA, or FTA Card 3 – 4 Weeks 2,800.00 AED Details
DSPP Gene Dentinogenesis Imperfecta Shields Type 2 Genetic Test TEST-5220 LOINC 93382-9 This genetic test identifies pathogenic variants in the DSPP gene, confirming a diagnosis of dentinogenesis imperfecta Shields type 2. Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot 3 to 4 Weeks 2,800.00 AED Details
DSPP Gene Dentinogenesis Imperfecta Shields Type 3 Genetic Test TEST-5257 LOINC 94299-7 This genetic test identifies pathogenic variants in the DSPP gene associated with Dentinogenesis Imperfecta Shields Type 3. Whole Blood (EDTA) or FTA Card 3–4 weeks 2,800.00 AED Details
DST Gene (Epidermolysis Bullosa Simplex, Autosomal Recessive Type 2) Genetic Test TEST-4330 LOINC 81413-0 This genetic test identifies pathogenic variants in the DST gene, confirming a diagnosis of autosomal recessive epidermolysis bullosa simplex type 2. Whole Blood (peripheral) 3–4 Weeks 2,800.00 AED Details
DYM Gene Dyggve-Melchior-Clausen Disease Genetic Test TEST-6250 LOINC 16994-7 This test evaluates the DYM gene for mutations associated with Dyggve-Melchior-Clausen syndrome. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
DYRK1A Gene Sequencing (Autosomal Dominant Intellectual Disability 7) 2800 AED Test TEST-4948 LOINC 104621-5 This diagnostic test evaluates the DYRK1A gene for sequence variants (SNVs, indels) and copy number variations (CNVs) associated with Autosomal Domina... Peripheral Whole Blood (EDTA) or Buccal Swab (FTA Card) 3 to 4 Weeks 2,800.00 AED Details
DYSF Gene Myopathy, Distal with Anterior Tibial Onset Genetic Test TEST-5341 LOINC 81263-6 This genetic test identifies pathogenic variants in the DYSF gene associated with distal myopathy and LGMD2B. Peripheral Blood (EDTA or FTA card) 3–4 weeks 2,800.00 AED Details
ECE1 Gene Central Hypoventilation Syndrome Congenital Genetic Test TEST-2997 LOINC 94043-0 This test identifies mutations in the ECE1 gene associated with congenital central hypoventilation syndrome. Peripheral whole blood, dried blood spot on FTA card, or extracted genomic DNA 3 to 4 weeks 2,800.00 AED Details
ECEL1 Gene Arthrogryposis, Distal, Type 5D Genetic Test TEST-5403 LOINC 94306-8 This test evaluates the ECEL1 gene for variants associated with Distal Arthrogryposis Type 5D. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
ECHS1 Gene Enoyl‑CoA Hydratase 1 Deficiency Genetic Test TEST-5126 LOINC 81307-7 This test analyzes the ECHS1 gene for pathogenic variants associated with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency. Whole blood (EDTA), buccal swab, or extracted DNA 3–4 weeks 2,800.00 AED Details
ECM1 Gene Analysis for Urbach-Wiethe Disease Test TEST-5817 LOINC 94850-1 This test evaluates the ECM1 gene for pathogenic variants associated with Urbach-Wiethe disease (lipoid proteinosis). It utilizes Next-Generation Sequ... Peripheral Whole Blood (Venipuncture) 3–4 weeks 2,800.00 AED Details
EDAR Gene Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Genetic Test TEST-5223 LOINC 95121-8 This genetic test analyzes the entire EDAR gene to detect mutations associated with hypohidrotic ectodermal dysplasia (HED). It identifies variants th... Blood, Extracted DNA, or One-drop Blood on FTA Card 3-4 Weeks 2,800.00 AED Details
EDNRB Gene Hirschsprung Disease Genetic Test TEST-2773 LOINC 77640-3 This test evaluates the EDNRB gene for pathogenic variants associated with Hirschsprung disease. Blood, Extracted DNA, FTA Card spot 3–4 Weeks 2,800.00 AED Details
EFHC1 Gene Juvenile Absence Epilepsy Type 1 DNA Test TEST-4364 LOINC 91849-1 This test identifies pathogenic variants in the EFHC1 gene associated with juvenile absence epilepsy type 1. Whole Blood (EDTA) or FTA Card (Dried Blood Spot) 3-4 Weeks 2,800.00 AED Details
EIF2B2 Gene Leukoencephalopathy with Vanishing White Matter (VWM) Genetic Test TEST-4784 LOINC 101398-1 This test identifies pathogenic variants in the EIF2B2 gene associated with leukoencephalopathy with vanishing white matter. Peripheral Whole Blood or FTA Card (Fingerstick) 3–4 Weeks 2,800.00 AED Details
ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 Genetic Test TEST-6240 LOINC 81304-2 This genetic test identifies mutations in the ELAC2 gene associated with Combined Oxidative Phosphorylation Deficiency Type 17. Peripheral whole blood; pre-extracted DNA 3–4 Weeks 2,800.00 AED Details
ELOVL4 Gene: Ichthyosis, Spastic Quadriplegia, and Intellectual Disability Test TEST-4947 LOINC 81247-9 This test evaluates the ELOVL4 gene for pathogenic variants associated with a specific syndromic disorder. Peripheral whole blood (3-5 mL EDTA) or dried blood spot on FTA card 3–4 weeks 2,800.00 AED Details
EMD Gene (Emery-Dreifuss Muscular Dystrophy Type 1) NGS Test TEST-4353 LOINC 55233-1 This test analyzes the entire EMD gene for mutations associated with Emery-Dreifuss muscular dystrophy type 1. Peripheral whole blood (EDTA) or FTA card 3–4 weeks 2,800.00 AED Details
ENO3 Gene Glycogen Storage Disease Type 13 (GSD XIII) Genetic Test TEST-6349 LOINC 77784-8 This test evaluates the entire ENO3 gene for mutations associated with Glycogen Storage Disease Type 13 (GSD XIII). It identifies pathogenic variants,... Peripheral Whole Blood (EDTA) or FTA Dried Blood Spot 3–4 Weeks 2,800.00 AED Details
ENPP1 Gene Arterial Calcification Type 1 (GACI) Genetic Test TEST-4081 LOINC 88518-0 This genetic test identifies pathogenic variants in the ENPP1 gene, confirming a diagnosis of Generalized Arterial Calcification of Infancy (GACI) typ... Peripheral Whole Blood 3 to 4 Weeks 2,800.00 AED Details
ENPP1 Gene Cole Disease Genetic Test TEST-5314 LOINC 98349-2 This genetic test analyzes the ENPP1 gene for mutations associated with Cole disease. Whole blood (EDTA), extracted DNA, or FTA card 21–28 Business Days 2,800.00 AED Details
Enterokinase Deficiency (TMPRSS15 Gene) Genetic Test TEST-6254 LOINC 21636-6 This genetic test analyzes the entire coding sequence and CNVs of the TMPRSS15 gene to detect pathogenic variants causing congenital enterokinase defi... Peripheral whole blood (2–5 mL in EDTA) or buccal swab (infants) 3–4 weeks from sample receipt 2,800.00 AED Details
EOGT Gene Adams-Oliver Syndrome Type 4 Genetic Test TEST-5432 LOINC 95887-3 This test identifies pathogenic variants in the EOGT gene associated with Adams-Oliver syndrome type 4. Peripheral whole blood (or pre-extracted DNA) 3-4 Weeks 2,800.00 AED Details
EPAS1 Gene Erythrocytosis (Familial Type 4) Genetic Test TEST-3287 LOINC 82939-0 This test evaluates the EPAS1 gene for mutations associated with familial erythrocytosis type 4. Whole Blood (EDTA), Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
EPHX2 Gene Modifier Analysis for Familial Hypercholesterolemia (LDLR Defect) via NGS Test TEST-6255 LOINC 88214-3 This test analyzes the EPHX2 gene to identify variants that modify the severity and drug response associated with LDLR-related familial hypercholester... Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 weeks 2,800.00 AED Details
Episodic Ataxia Type 2 Hotspot Test TEST-1055 LOINC 21631-6 This test identifies specific pathogenic mutations in the CACNA1A gene associated with Episodic Ataxia Type 2 (EA2). It is used for definitive diagnos... Whole Blood (Lavender Top EDTA Tube, 2 mL min) 5 Business Days 1,500.00 AED Details
ESR1 Gene Estrogen Resistance Genetic Test TEST-3839 LOINC 93026-2 This genetic test identifies pathogenic variants in the ESR1 gene associated with estrogen resistance. Peripheral Whole Blood 21–28 Business Days 2,800.00 AED Details
ETHE1 Gene Ethylmalonic Encephalopathy Genetic Test TEST-4399 LOINC 95207-8 This test identifies pathogenic variants in the ETHE1 gene associated with ethylmalonic encephalopathy. Whole Blood, Extracted DNA, Dried Blood Spot 3–4 Weeks 2,800.00 AED Details
ETV6 Gene Thrombocytopenia Type 5 Genetic Test TEST-3142 LOINC 76905-3 This test evaluates the ETV6 gene for variants associated with hereditary thrombocytopenia type 5. Peripheral whole blood (EDTA) 3–4 Weeks 2,800.00 AED Details
EXT1 Gene Exostoses, Multiple, Type 1 Test TEST-5084 LOINC 21636-6 This test evaluates the EXT1 gene for pathogenic variants associated with Hereditary Multiple Exostoses (Type 1). It identifies genetic mutations link... Whole blood (EDTA) or FTA card 3–4 weeks 2,800.00 AED Details
EYA1 Gene Branchiootic Syndrome Type 1 Genetic Test TEST-5795 LOINC 94219-4 This test identifies pathogenic variants in the EYA1 gene to diagnose Branchiootic Syndrome Type 1. Whole Blood (EDTA, 3–5 mL) or Extracted DNA (≥1 µg, A260/A280: 1.8–2.0) 3 to 4 Weeks 2,800.00 AED Details
F12 Gene (Factor XII Deficiency) Genetic Test TEST-3835 LOINC 21636-3 This genetic test evaluates the F12 gene for mutations associated with Factor XII deficiency and Hereditary Angioedema type III. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
F2 (Prothrombin) Gene Mutation Analysis (NGS) Test TEST-4050 LOINC 59228-8 This test detects the G20210A mutation in the F2 (Prothrombin) gene, a common inherited risk factor for venous thromboembolism. Peripheral whole blood (3–5 mL in EDTA tube) or dried blood spot (FTA card) 3–4 Weeks 2,800.00 AED Details
F5 Gene Factor V Deficiency Genetic Test TEST-6261 LOINC 55383-1 This test evaluates the F5 gene for pathogenic variants associated with Factor V deficiency. Peripheral Whole Blood or DNA Extract 3 to 4 Weeks 2,800.00 AED Details
Factor XI Deficiency (F11) Gene Sequencing Test (NGS) TEST-3879 LOINC 83142-5 This test evaluates the F11 gene for pathogenic variants associated with hereditary Factor XI deficiency. Blood (EDTA), Extracted DNA, or FTA Card Blood Spot 3 to 4 Weeks 2,800.00 AED Details
FAH Gene Tyrosinemia Type 1 Genetic Test TEST-5826 LOINC 94851-1 This test evaluates the FAH gene for pathogenic variants associated with Tyrosinemia Type 1. Peripheral whole blood (3 ml EDTA) or buccal swab 3–4 Weeks 2,800.00 AED Details
FAM20A Gene Amelogenesis Imperfecta Type 1G Genetic Test TEST-5450 LOINC 96208-4 This genetic test evaluates the FAM20A gene for pathogenic variants associated with Amelogenesis Imperfecta Type IG. Peripheral Whole Blood (EDTA tube) 3–4 Weeks 2,800.00 AED Details
FAM20C Gene Raine Syndrome Genetic Test TEST-4612 LOINC 94762-2 This test identifies pathogenic variants in the FAM20C gene associated with Raine syndrome. Whole Blood (EDTA), Extracted DNA, or FTA Card 3 – 4 Weeks 2,800.00 AED Details
Fanconi Anemia Type D2 (FANCD2) Gene Genetic Test TEST-6274 LOINC 101516-4 This test identifies pathogenic variants within the FANCD2 gene associated with Fanconi anemia type D2. Whole blood (EDTA), extracted DNA, or FTA card (dried blood spot) 3–4 weeks 2,800.00 AED Details
FBLN5 Gene Cutis Laxa Type 1A Genetic Test TEST-5243 LOINC 81254-5 This diagnostic test evaluates the FBLN5 gene for pathogenic variants associated with autosomal recessive cutis laxa type 1A. Peripheral Whole Blood (EDTA), FTA Card, or Extracted Genomic DNA 3–4 weeks 2,800.00 AED Details
FBN1 Gene Geleophysic Dysplasia Type 2 Genetic Test TEST-2820 LOINC 55233-1 This test identifies pathogenic variants in the FBN1 gene associated with Geleophysic Dysplasia Type 2. Peripheral whole blood (EDTA), extracted DNA, or FTA card blood spot 3–4 weeks 2,800.00 AED Details
FBP1 Gene Fructose-1,6-Bisphosphatase Deficiency Genetic Test TEST-6383 LOINC 94124-8 This genetic test identifies mutations in the FBP1 gene associated with fructose-1,6-bisphosphatase deficiency. Peripheral Whole Blood or Dried Blood Spot (FTA Card) 3–4 weeks 2,800.00 AED Details
FBXO7 Gene PARK15 Parkinson Genetic Test TEST-5511 LOINC 21636-6 This diagnostic test evaluates the FBXO7 gene for pathogenic variants associated with autosomal recessive juvenile-onset parkinsonism (PARK15). It uti... Whole Blood (3-5 mL EDTA), Extracted DNA (≥1 μg at ≥50 ng/μL), or Dried Blood Spot (FTA Card) 3 to 4 Weeks 2,800.00 AED Details
FCGR2B Gene Malaria Resistance Test TEST-4799 LOINC 88825-8 This test evaluates genetic variants within the FCGR2B gene associated with innate resistance to severe malaria. Peripheral blood (venous or FTA card) 3–4 weeks 2,800.00 AED Details
FERMT3 Gene Leukocyte Adhesion Deficiency Type 3 (LAD3) Genetic Test TEST-4830 LOINC 49863-9 This genetic test identifies pathogenic variants in the FERMT3 gene, confirming a diagnosis of Leukocyte Adhesion Deficiency Type 3 (LAD3). Whole blood (EDTA), extracted DNA, or one drop blood on FTA card 3–4 weeks 2,800.00 AED Details
FGF8 Gene Hypogonadotropic Hypogonadism Type 6 Genetic Test TEST-2717 LOINC 21674-5 This test detects pathogenic variants in the FGF8 gene associated with autosomal dominant hypogonadotropic hypogonadism type 6. Peripheral Whole Blood (3-5 mL in EDTA) or Extracted Genomic DNA (minimum 500 ng) 3 – 4 Weeks 2,800.00 AED Details
FGFR1 Gene Trigonocephaly Type 1 Genetic Test TEST-2215 LOINC 51969-6 This test analyzes the FGFR1 gene for pathogenic variants associated with trigonocephaly type 1 and related craniosynostosis syndromes. Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card 3 to 4 Weeks 2,800.00 AED Details
FGFR2 Gene (Crouzon Syndrome) Genetic Test TEST-2897 LOINC 93296-0 This test evaluates the FGFR2 gene for pathogenic variants associated with Crouzon syndrome. Peripheral Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
FGFR2 Gene Analysis for Jackson-Weiss Syndrome (Genetic Test) TEST-2701 LOINC 91576-0 This test identifies pathogenic variants within the FGFR2 gene associated with Jackson-Weiss syndrome. Peripheral Whole Blood or Extracted DNA 3 to 4 Weeks 2,800.00 AED Details
FGFR2 Gene Apert Syndrome Genetic Test TEST-3077 LOINC 21636-1 This test identifies pathogenic and likely pathogenic variants in the FGFR2 gene to confirm a diagnosis of Apert syndrome and related craniosynostosis... Peripheral whole blood (EDTA tube, 3–5 mL), extracted DNA, or FTA card blood spot 3–4 weeks from sample receipt at laboratory 2,800.00 AED Details
FGFR2 Gene Beare‑Stevenson Cutis Gyrata Syndrome Genetic Test TEST-5316 LOINC 82757-6 This genetic test identifies pathogenic variants in the FGFR2 gene associated with Beare‑Stevenson cutis gyrata syndrome. Whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) 3–4 Weeks (21–28 calendar days) 2,800.00 AED Details
FGFR3 Gene Achondroplasia Genetic Test TEST-5498 LOINC 92720-5 This test identifies pathogenic variants in the FGFR3 gene associated with achondroplasia. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
FGFR3 Gene Crouzon Syndrome with Acanthosis Nigricans Genetic Test TEST-5248 LOINC 21636-6 This test identifies pathogenic variants in the FGFR3 gene associated with Crouzon syndrome with acanthosis nigricans. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
FGFRL1 Gene Radioulnar Synostosis Genetic Test TEST-4593 LOINC 94222-3 This genetic test evaluates the FGFRL1 gene for pathogenic variants associated with radioulnar synostosis and related phenotypes. Whole Blood (EDTA) or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
Filaggrin (FLG) Gene Atopic Dermatitis Type 2 Genetic Test TEST-5215 LOINC 83263-0 This genetic test evaluates the FLG gene for mutations associated with atopic dermatitis and related skin barrier disorders. Peripheral whole blood (EDTA) or buccal swab 14–21 working days 2,800.00 AED Details
FKRP Gene (Muscular Dystrophy Type 1C) NGS Test TEST-5148 LOINC 94268-2 This diagnostic test evaluates the FKRP gene for pathogenic variants associated with congenital muscular dystrophy type 1C (MDC1C) and limb-girdle mus... Peripheral whole blood (3–5 mL in EDTA tube) 3–4 weeks (21–28 days) from sample receipt 2,800.00 AED Details
FLNA Gene Cardiac Valvular Dysplasia, X-Linked Genetic Test TEST-4371 LOINC 82993-5 This test evaluates the FLNA gene for pathogenic variants associated with X-linked cardiac valvular dysplasia. Peripheral whole blood (3–5 mL in EDTA lavender-top tube) 3 to 4 weeks from sample receipt 2,800.00 AED Details
FLNA Gene Neuronal Intestinal Pseudo-obstruction Genetic Test TEST-4642 LOINC 101411-5 This genetic test identifies pathogenic variants in the FLNA gene, which are associated with neuronal intestinal pseudo-obstruction. Peripheral whole blood (EDTA) or DNA FTA card 3 – 4 weeks from sample receipt 2,800.00 AED Details
FLNB Gene Atelosteogenesis Type 1 Genetic Test TEST-5391 LOINC 21636-6 This test identifies pathogenic variants in the FLNB gene associated with Atelosteogenesis Type 1 (AO1), a severe skeletal dysplasia. Whole Blood, Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
FLNC Gene Distal Myopathy Type 4 Genetic Test TEST-5252 LOINC 81268-8 This genetic test evaluates the FLNC gene for pathogenic mutations associated with distal myopathy type 4. Peripheral Whole Blood 3 to 4 Weeks 2,800.00 AED Details
FLT4 Gene Hereditary Lymphedema Type 1A Genetic Test TEST-4828 LOINC 104197-1 This test evaluates the FLT4 gene for pathogenic variants associated with Hereditary Lymphedema Type 1A (Milroy disease). Peripheral Whole Blood (FTA Card also accepted) 3–4 Weeks 2,800.00 AED Details
FOXP2 Gene Speech-Language Disorder Type 1 Genetic Test TEST-2278 LOINC 92121-8 This genetic test identifies pathogenic variants in the FOXP2 gene associated with Childhood Apraxia of Speech (CAS) and related dysmorphology. Whole Blood (EDTA) or FTA Card 3–4 Weeks 2,800.00 AED Details
Fragile X Syndrome (FMR1) Detection by PCR Test TEST-1567 LOINC 21660-5 This test detects CGG repeat expansions in the FMR1 gene, which are associated with Fragile X syndrome. Peripheral Whole Blood (EDTA) 3–4 Business Days 1,500.00 AED Details
Fragile X Tremor/Ataxia Syndrome (FXTAS) Genetic Test TEST-1273 LOINC 49255-1 This diagnostic test evaluates the number of CGG repeats in the FMR1 gene to identify premutation or full mutation status associated with FXTAS. Whole blood (EDTA, Lavender Top) 4 working days 1,300.00 AED Details
FREM1 Gene (Bifid Nose) Genetic Test TEST-3038 LOINC 82321-5 This test identifies mutations in the FREM1 gene associated with bifid nose, a congenital craniofacial anomaly. Peripheral whole blood (3–5 mL EDTA) or FTA card blood spot or extracted DNA 3-4 Weeks 2,800.00 AED Details
FSHB Gene (Follicle-Stimulating Hormone Beta Subunit) Deficiency Test TEST-3420 LOINC 21658-6 This test evaluates the FSHB gene for pathogenic variants associated with isolated FSH deficiency and hypogonadotropic hypogonadism. Whole Blood (EDTA) or Extracted DNA 3–4 weeks 2,800.00 AED Details
FSHR Gene Ovarian Dysgenesis Type 1 Genetic Test TEST-3429 LOINC 21634-7 This genetic test evaluates the FSHR gene for pathogenic variants associated with ovarian dysgenesis type 1. Peripheral Blood (Whole Blood) or Buccal Swab (DNA) 3–4 Weeks 2,800.00 AED Details
G6PC2 Gene Hyperinsulinaemia Genetic Test TEST-6185 LOINC 81247-9 This genetic test identifies pathogenic variants in the G6PC2 gene associated with congenital hyperinsulinism. Whole Blood (3 mL), FTA Card Blood Spot, or Extracted DNA 21–28 calendar days 2,800.00 AED Details
G6PD Deficiency (Favism) Susceptibility Genetic Test TEST-6379 LOINC 82794-6 This genetic test identifies variants in the G6PD gene associated with favism, a condition causing hemolytic anemia upon exposure to specific triggers... Whole Blood (peripheral), Extracted DNA, or Dried Blood Spot (FTA Card) 3 to 4 Weeks 2,800.00 AED Details
G6PD Gene (Favism) Susceptibility Genetic Test TEST-3283 LOINC 96512-1 This test evaluates the G6PD gene for pathogenic variants associated with G6PD deficiency, a condition causing red blood cell breakdown. Peripheral Whole Blood 3 to 4 Weeks 2,800.00 AED Details
GAA Gene Pompe Disease Genetic Test TEST-5937 LOINC 78416-5 This genetic test identifies pathogenic variants in the GAA gene, confirming a diagnosis of Pompe disease (glycogen storage disease type II). It provi... Peripheral whole blood, FTA card, or extracted DNA 3–4 weeks 2,800.00 AED Details
GABRB1 Gene Early Infantile Epileptic Encephalopathy Type 45 Genetic Test TEST-4277 LOINC 21636-6 This test evaluates the GABRB1 gene for pathogenic variants associated with early infantile epileptic encephalopathy type 45 (EIEE45). Peripheral whole blood or FTA blood spot 3 to 4 weeks 2,800.00 AED Details
GABRB3 Gene Epilepsy (Childhood Absence Type 5) Genetic Test TEST-4339 LOINC 55233-1 This test identifies mutations in the GABRB3 gene associated with childhood absence epilepsy type 5. Whole Blood (EDTA) – Peripheral 3 to 4 weeks 2,800.00 AED Details
GAD1 Gene Cerebral Palsy Type 1, Spastic Quadriplegic Genetic Test TEST-3982 LOINC 55233-1 This genetic test evaluates for pathogenic variants in the GAD1 gene associated with autosomal recessive spastic quadriplegic cerebral palsy type 1. Blood, Extracted DNA, or FTA Card (Dried Blood Spot) 3 to 4 Weeks 2,800.00 AED Details
Galactosemia (GALT) Gene Mutation Detection Test TEST-1280 LOINC 32196-4 This test identifies pathogenic variants in the GALT gene, confirming a diagnosis of classic galactosemia. Whole Blood (EDTA Lavender Top Tube) 15 Business Days 1,800.00 AED Details
GALC Gene Krabbe Disease Genetic Test TEST-4619 LOINC 94056-2 This test evaluates the GALC gene for mutations associated with Krabbe disease. Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
GALNS Gene Mucopolysaccharidosis Type IVA Genetic Test TEST-5988 LOINC 83365-7 This genetic test sequences the GALNS gene to identify pathogenic variants associated with Mucopolysaccharidosis Type IVA (Morquio A Syndrome). It pro... Peripheral Whole Blood (EDTA), FTA Card, or Extracted DNA 3 to 4 Weeks 2,800.00 AED Details
GALNT3 Gene Genetic Test for Tumoral Calcinosis, Hyperphosphatemic, Familial, Type 1 TEST-5831 LOINC 82443-0 This test identifies mutations within the GALNT3 gene associated with hyperphosphatemic familial tumoral calcinosis type 1. Whole blood (3–5 mL in EDTA tube), extracted DNA, or FTA card blood spot 3–4 weeks 2,800.00 AED Details
GAN Gene (Giant Axonal Neuropathy Type 1) Genetic Test TEST-4520 LOINC 82810-3 This genetic test analyzes the GAN gene for pathogenic variants associated with Giant Axonal Neuropathy type 1. Whole Blood (EDTA) or Dried Blood Spot 3–4 Weeks 2,800.00 AED Details
GATA1 Gene Anemia, X-linked Genetic Test TEST-3354 LOINC 51594-0 This test evaluates the GATA1 gene for pathogenic variants associated with X-linked dyserythropoietic anemia and thrombocytopenia. Peripheral Whole Blood (2–5 mL) or FTA Dried Blood Spot 3–4 Weeks 2,800.00 AED Details
GATA4 Gene Tetralogy of Fallot Genetic Test TEST-4130 LOINC 94083-3 This test detects pathogenic variants in the GATA4 gene associated with Tetralogy of Fallot. Whole Blood (Peripheral) 21 – 28 Business Days 2,800.00 AED Details
GATA6 Gene Atrioventricular Septal Defect Type 5 NGS Test TEST-4397 LOINC 21561-4 This test identifies genetic variants in the GATA6 gene associated with atrioventricular septal defect type 5 (AVSD5). It uses next-generation sequenc... Whole blood (EDTA), extracted DNA, dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
GATAD2B Gene Sequencing (Autosomal Dominant Intellectual Disability Type 18) NGS Test TEST-4916 LOINC 94474-7 This diagnostic test evaluates the GATAD2B gene for pathogenic variants associated with Autosomal Dominant Intellectual Disability Type 18 (MRD18). Peripheral Whole Blood (EDTA tube) or Dried Blood Spot (FTA Card) 21 to 28 Days (3–4 Weeks) 2,800.00 AED Details
GATM Gene (Arginine:Glycine Amidinotransferase [AGAT] Deficiency) Genetic Test TEST-6112 LOINC 50398-7 This test identifies pathogenic variants in the GATM gene responsible for arginine:glycine amidinotransferase (AGAT) deficiency. Peripheral whole blood (3–5 mL EDTA tube) 3–4 weeks 2,800.00 AED Details
GBE1 Gene (Andersen Disease) Genetic Test TEST-6091 LOINC 82939-0 This genetic test identifies pathogenic variants in the GBE1 gene associated with Andersen disease (glycogen storage disease type IV). Whole Blood (EDTA), Extracted DNA, or FTA Card Spot 3–4 Weeks 2,800.00 AED Details
GFAP Gene Alexander Disease Genetic Test TEST-3754 LOINC 92550-1 This test evaluates the entire GFAP gene for mutations associated with Alexander disease. Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot 3–4 Weeks 2,800.00 AED Details
GFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 1 Genetic Test TEST-6223 LOINC 101447-4 This genetic test identifies disease-causing variants in the GFM1 gene associated with combined oxidative phosphorylation deficiency type 1. Peripheral Whole Blood (EDTA) 3 to 4 Weeks 2,800.00 AED Details
GFM2 Gene Microcephaly with Simplified Gyral Pattern and Insulin‑Dependent Diabetes Genetic Test TEST-2571 LOINC 82939-0 This genetic test identifies pathogenic variants in the GFM2 gene associated with microcephaly with simplified gyral pattern and insulin-dependent dia... Whole Blood (EDTA) or FTA Card (DNA) 3–4 Weeks 2,800.00 AED Details
GHR Gene Analysis (Growth Hormone Insensitivity, Partial) Test TEST-2811 LOINC 21662-6 This test evaluates the GHR gene for pathogenic variants associated with partial growth hormone insensitivity (Laron syndrome). It helps identify the... Peripheral whole blood (3–5 mL in EDTA tube) or FTA card 3 to 4 weeks 2,800.00 AED Details
GHRHR Gene Growth Hormone Deficiency Genetic Test TEST-3785 LOINC 81343-6 This test detects pathogenic variants in the GHRHR gene associated with isolated growth hormone deficiency type IB. Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card 3–4 Weeks from sample receipt in laboratory 2,800.00 AED Details
GJB2 Gene (KID Syndrome) Genetic Test TEST-5610 LOINC 21629-6 This test evaluates the GJB2 gene for pathogenic variants associated with Keratitis-Ichthyosis-Deafness (KID) syndrome. Whole Blood (EDTA), Extracted DNA (≥1 µg), or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
GJB2 Gene Keratoderma, Palmoplantar, with Deafness Genetic Test TEST-5552 LOINC 21657-2 This test evaluates the GJB2 gene for pathogenic variants associated with Palmoplantar Keratoderma with Deafness (PPK-D). It identifies mutations caus... Peripheral whole blood (3–5 mL in EDTA tube) or extracted DNA 3–4 Weeks 2,800.00 AED Details
GJB3 Gene Deafness (DFNA2B) Genetic Test TEST-5756 LOINC 21636-6 This test evaluates the GJB3 gene for pathogenic variants associated with autosomal dominant non-syndromic hearing loss (DFNA2B) and keratoderma-deafn... Peripheral whole blood (EDTA), dried blood spot (FTA card), or previously extracted genomic DNA 3–4 Weeks from sample receipt 2,800.00 AED Details
GJB3 Gene Erythrokeratodermia Variabilis et Progressiva Genetic Test TEST-5123 LOINC 95209-3 This test identifies pathogenic variants in the GJB3 gene associated with Erythrokeratodermia Variabilis et Progressiva (EKVP). Whole blood (EDTA), extracted DNA, or dried blood spot on FTA card 21–28 calendar days from sample receipt 2,800.00 AED Details
GLA Gene Fabry Disease Genetic Test TEST-4013 LOINC 21687-4 This test evaluates the GLA gene for mutations associated with Fabry disease using Next-Generation Sequencing (NGS) with Copy Number Variation (CNV) d... Whole blood (EDTA), Extracted DNA, or FTA Card 3–4 weeks 2,800.00 AED Details
GLB1 Gene GM1-Gangliosidosis Genetic Test TEST-4556 LOINC 81313-7 This genetic test identifies pathogenic variants in the GLB1 gene associated with GM1-gangliosidosis. Blood, Extracted DNA, or FTA DNA Card 3–4 Weeks 2,800.00 AED Details
GLDC Gene Glycine Encephalopathy Genetic Test TEST-3793 LOINC 83084-7 This test identifies pathogenic variants in the GLDC gene, which are responsible for causing glycine encephalopathy (nonketotic hyperglycinemia). It i... Whole blood (EDTA) or buccal swab 21 working days 2,800.00 AED Details
GLI3 Gene Pallister-Hall Syndrome Genetic Test TEST-2449 LOINC 82939-0 This test identifies pathogenic variants in the GLI3 gene associated with Pallister-Hall syndrome. Whole Blood, Extracted DNA, or Dried Blood Spot 3–4 Weeks (21–28 business days) 2,800.00 AED Details
GLRA1 Gene Hyperekplexia Genetic Test TEST-4535 LOINC 78948-8 This test analyzes the GLRA1 gene for mutations associated with hereditary hyperekplexia, also known as startle disease. Peripheral whole blood (EDTA tube) 3–4 weeks 2,800.00 AED Details
Glucose-6-Phosphate Dehydrogenase (G6PD) Full Length Gene Sequence Analysis Test TEST-1551 LOINC 21626-1 This test sequences the entire G6PD gene to identify pathogenic variants causing enzyme deficiency. Peripheral Whole Blood, Amniotic Fluid, or Cord Blood 2–3 weeks 5,000.00 AED Details
GNA13 Genetic Testing for Vascular System Defects Test TEST-3988 LOINC 101581-3 This test detects pathogenic variants in the GNA13 gene associated with congenital vascular malformations and related circulatory defects. Whole blood, FTA card, or previously extracted DNA 3–4 Weeks 2,800.00 AED Details
GNAI3 Gene Auriculocondylar Syndrome Type 1 Genetic Test TEST-3094 LOINC 81221-0 This test identifies pathogenic variants in the GNAI3 gene associated with Autosomal Dominant Auriculocondylar Syndrome Type 1 (ACS1). Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
GNE Gene Inclusion Body Myopathy Genetic Test TEST-4551 LOINC 21665-7 This test evaluates the GNE gene for pathogenic variants associated with GNE Myopathy (Nonaka Myopathy), a hereditary neuromuscular disorder. Whole Blood (EDTA tube) or Dried Blood Spot (FTA card) 3 to 4 weeks 2,800.00 AED Details
GNRHR Gene Hypogonadotropic Hypogonadism Type 7 with or without Anosmia Genetic Test TEST-3714 LOINC 82378-6 This genetic test detects pathogenic variants in the GNRHR gene associated with hypogonadotropic hypogonadism type 7. Whole Blood, Extracted DNA, or FTA Card Dried Blood Spot 3–4 weeks 2,800.00 AED Details
GPC3 Gene Simpson-Golabi-Behmel Syndrome Type 1 Genetic Test TEST-5689 LOINC 90900-1 This test evaluates the GPC3 gene for pathogenic variants associated with Simpson-Golabi-Behmel syndrome type 1. Peripheral blood (Whole blood in EDTA tube) 3-4 Weeks 2,800.00 AED Details
GPI Gene Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency Genetic Test TEST-6228 LOINC 21636-6 This test identifies pathogenic variants in the GPI gene associated with glucose phosphate isomerase deficiency, a cause of chronic nonspherocytic hem... Blood, Extracted DNA, or Dried Blood Spot (FTA Card) 3 to 4 Weeks 2,800.00 AED Details
GREM1 Gene Polyposis Syndrome, Hereditary Mixed Genetic Test TEST-1918 LOINC 93940-4 This molecular diagnostic assay detects germline mutations in the GREM1 gene associated with hereditary mixed polyposis syndrome (HMPS) and elevated c... Whole Blood (EDTA) or Saliva (Oragene DNA collection kit) 3–4 Weeks 2,800.00 AED Details
GRID2 Gene Schizophrenia Genetic Test TEST-5579 LOINC 103204-6 This test evaluates the GRID2 gene for pathogenic variants associated with an increased risk of developing schizophrenia. Peripheral whole blood, extracted DNA, or dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
GRID2 Gene Spinocerebellar Ataxia Type 18 (Autosomal Recessive) Genetic Test TEST-5764 LOINC 81247-9 This test identifies pathogenic variants within the GRID2 gene associated with Spinocerebellar Ataxia Type 18. Peripheral Whole Blood, Extracted DNA, or FTA Card Specimen 3–4 Weeks 2,800.00 AED Details
GRIN2B Gene Sequencing for Mental Retardation, Autosomal Dominant Type 6 (Genetic Test) TEST-4845 LOINC 81261-2 This test identifies pathogenic variants in the GRIN2B gene associated with autosomal dominant mental retardation type 6. Whole Blood (Peripheral Venous) 3–4 Weeks 2,800.00 AED Details
GRN Gene Analysis (Ceroid Lipofuscinosis Neuronal Type 11, CLN11) Test TEST-6175 LOINC 94842-2 This test identifies mutations in the GRN gene associated with Ceroid Lipofuscinosis Neuronal Type 11 (CLN11), a neurodegenerative lysosomal storage d... Whole blood, extracted DNA, or FTA card 3–4 weeks 2,800.00 AED Details
GYG2 Gene Genetic Test for Autism Spectrum Disorder TEST-3924 LOINC 55233-1 This test identifies pathogenic variants in the GYG2 gene linked to autism spectrum disorder. Whole Blood (EDTA) or Saliva 3 to 4 Weeks 2,800.00 AED Details
GYS1 Gene Test TEST-6359 LOINC 82154-2 This test detects pathogenic variants in the GYS1 gene associated with Glycogen Storage Disease Type 0 (muscle form). Peripheral whole blood (EDTA tube) 3–4 Weeks 2,800.00 AED Details
HADH Gene 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Genetic Test TEST-5918 LOINC 81614-3 This genetic test identifies mutations in the HADH gene associated with 3-hydroxyacyl-CoA dehydrogenase deficiency (SCHAD deficiency). It analyzes the... Whole Blood (EDTA) or FTA Card 3–4 Weeks 2,800.00 AED Details
Haptoglobin Genotyping Test TEST-1410 LOINC 55531-4 This genetic test identifies the specific haptoglobin genotype (HP1-1, HP2-1, or HP2-2) inherited by the patient. Whole Blood (EDTA) 8 Working Days 850.00 AED Details
HARS2 Gene Perrault Syndrome Type 2 Genetic Test TEST-5474 LOINC 91703-3 This test identifies pathogenic mutations in the HARS2 gene associated with Perrault Syndrome Type 2. Whole Blood, Extracted DNA, or FTA Card 3 to 4 weeks 2,800.00 AED Details
HBG2 Gene (Transient Neonatal Cyanosis) Genetic Test TEST-3338 LOINC 21665-1 This genetic test evaluates the HBG2 gene for pathogenic variants associated with transient neonatal cyanosis. Peripheral whole blood (heel-prick or venous) 3–4 weeks 2,800.00 AED Details
HCFC1 Gene Sequencing for X-Linked Intellectual Disability Type 3 (Genetic Test) TEST-4918 LOINC 55233-1 This test analyzes the HCFC1 gene for pathogenic variants associated with X-linked intellectual disability type 3 (MRX3) and cblX metabolic disorder. Whole Blood, DNA FTA Card, or Extracted DNA 3–4 Weeks 2,800.00 AED Details
HDAC8 Gene Cornelia de Lange Syndrome Type 5 Genetic Test (NGS) TEST-5292 LOINC 81247-9 This genetic test analyzes the HDAC8 gene to identify mutations associated with Cornelia de Lange Syndrome type 5. Whole Blood (EDTA) or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
Hemochromatosis Detection HFE Genotyping Test TEST-1425 LOINC 21670-8 This test detects the presence of common genetic mutations (C282Y, H63D, S65C) in the HFE gene linked to hereditary hemochromatosis. Whole Blood (EDTA) 2–3 Working Days 1,000.00 AED Details
HEXB Gene (GM2-Gangliosidosis Type 2) Next-Generation Sequencing DNA Test TEST-6314 LOINC 94086-2 This diagnostic test evaluates the HEXB gene for pathogenic variants associated with GM2-gangliosidosis type 2 (Sandhoff disease). It identifies mutat... Peripheral Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED Details
HFE Gene Hemochromatosis (Classic) Genetic Test TEST-6244 LOINC 21665-7 This genetic test analyzes the HFE gene for mutations linked to hereditary hemochromatosis, an iron overload disorder. Whole blood (EDTA), extracted DNA, or dried blood spot on FTA card 21–28 calendar days 2,800.00 AED Details
HMBS Gene (Porphyria Acute Intermittent) Genetic Test TEST-5868 LOINC 21626-1 This genetic test evaluates the hydroxymethylbilane synthase (HMBS) gene for pathogenic variants associated with acute intermittent porphyria (AIP). I... Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
Horse DNA Test (Equine DNA Detection) TEST-424 LOINC 57721-3 This test detects the presence of equine (horse) DNA in a human blood sample. Peripheral whole blood (EDTA) 10 business days 2,000.00 AED Details
HOXA13 Gene Hand‑Foot‑Uterus Syndrome Genetic Test TEST-3416 LOINC 94076-2 This genetic test identifies pathogenic variants in the HOXA13 gene associated with Hand-Foot-Uterus Syndrome. Whole blood (2‑3 mL EDTA) or dried blood spot (FTA card) 3–4 Weeks 2,800.00 AED Details
HOXD13 Gene Syndactyly Type 1 Genetic Test TEST-2258 LOINC 78043-4 This test evaluates the HOXD13 gene for pathogenic variants associated with non-syndromic syndactyly type 1. Whole blood (EDTA) or saliva (Oragene® kit) 3–4 weeks 2,800.00 AED Details
HP Gene Ahaptoglobinemia Genetic Test TEST-3320 LOINC 81247-9 This genetic test identifies pathogenic variants in the haptoglobin (HP) gene to diagnose congenital ahaptoglobinemia. Whole Blood (EDTA) or Extracted DNA 10–14 Business Days 2,800.00 AED Details
HPS3 Gene (Hermansky‑Pudlak Syndrome Type 3) Genetic Test TEST-3689 LOINC 82939-1 This genetic test evaluates the HPS3 gene for mutations associated with Hermansky-Pudlak syndrome type 3. Blood, extracted DNA, or one drop blood on FTA card 3 to 4 weeks 2,800.00 AED Details
HPS4 Gene Hermansky-Pudlak Syndrome Type 4 Genetic Test TEST-3659 LOINC 81262-3 This genetic test evaluates the HPS4 gene for pathogenic variants associated with Hermansky-Pudlak syndrome type 4. Peripheral Whole Blood (EDTA Tube) or Extracted DNA 3–4 Weeks 2,800.00 AED Details
HRAS Gene Costello Syndrome Genetic Test TEST-2933 LOINC 95721-2 This test identifies pathogenic variants in the HRAS gene associated with Costello syndrome. Whole blood (EDTA), extracted DNA, or FTA card 3–4 Weeks 2,800.00 AED Details
HSD11B2 Gene (Apparent Mineralocorticoid Excess) Genetic Test TEST-6108 LOINC 81247-9 This genetic test sequences the entire HSD11B2 gene to identify pathogenic variants causing Apparent Mineralocorticoid Excess (AME), a rare form of hy... Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card 3 to 4 Weeks 2,800.00 AED Details
HSD17B10 Gene (17-Beta Hydroxysteroid Dehydrogenase X Deficiency) Genetic Test TEST-3941 LOINC 82311-7 This genetic test evaluates the HSD17B10 gene for mutations associated with 17-Beta Hydroxysteroid Dehydrogenase X Deficiency. Whole blood (EDTA), Extracted DNA, or FTA Card (dried blood spot) 3–4 Weeks 2,800.00 AED Details
HSD17B4 Gene D-Bifunctional Protein Deficiency Genetic Test TEST-2893 LOINC 82213-8 This test identifies pathogenic variants in the HSD17B4 gene, confirming a diagnosis of D-bifunctional protein deficiency. Peripheral whole blood or FTA card (dried blood spot) 3–4 Weeks 2,800.00 AED Details
HTRA1 Gene (CARASIL) Genetic Test TEST-4061 LOINC 93721-0 This test identifies biallelic pathogenic variants in the HTRA1 gene, confirming a diagnosis of CARASIL. Peripheral Whole Blood or Dried Blood Spot (FTA card) 3–4 weeks 2,800.00 AED Details
Huntington Disease Mutation Detection Test TEST-1705 LOINC 21636-6 This test detects and quantifies the CAG trinucleotide repeat expansion in the HTT gene, which is the genetic cause of Huntington disease. Peripheral Whole Blood (Lavender-top EDTA Tube) 10 Working Days 1,000.00 AED Details
HUWE1 Gene Sequencing Test for X-Linked Syndromic Intellectual Disability (Turner Type) TEST-4896 LOINC 94222-1 This test evaluates the HUWE1 gene for pathogenic variants associated with X-linked syndromic intellectual disability (Turner type). It identifies spe... Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
IARS2 Gene Comprehensive Genetic Test TEST-5729 LOINC 81247-9 This test sequences the entire IARS2 gene to identify mutations causing a rare syndrome characterized by congenital cataracts, growth hormone deficien... Peripheral Whole Blood or FTA Card 3 to 4 weeks 2,800.00 AED Details
IARS2 Gene Genetic Test for Syndromic Disorders TEST-3564 LOINC 91253-3 This test evaluates the IARS2 gene for mutations associated with a specific syndromic disorder. Peripheral Whole Blood 3–4 Weeks (after sample receipt) 2,800.00 AED Details
IARS2 Gene‑Related Disorders Genetic Test TEST-3866 LOINC 94222-2 This test identifies pathogenic variants in the IARS2 gene associated with a multisystem disorder. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
IDH1 & IDH2 Mutation Analysis Test TEST-1484 LOINC ['92814-3', '92815-0'] This test detects specific somatic mutations in the IDH1 and IDH2 genes within tumor tissue. Formalin-Fixed Paraffin-Embedded (FFPE) Tumor Tissue 7–8 Working Days 1,600.00 AED Details
IFIH1 Gene Aicardi-Goutières Syndrome Type 7 Genetic Test TEST-3751 LOINC 81304-0 This test evaluates the IFIH1 gene for pathogenic variants associated with Aicardi-Goutières syndrome type 7. Peripheral whole blood, extracted DNA, or dried blood spot 3–4 Weeks 2,800.00 AED Details
IFNGR2 Gene (Atypical Mycobacterial Infection) Genetic Test TEST-5348 LOINC 81247-9 This genetic test identifies pathogenic variants in the IFNGR2 gene associated with Mendelian susceptibility to mycobacterial disease (MSMD). It helps... Whole blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card) 3 – 4 Weeks 2,800.00 AED Details
IFT122 Gene Cranioectodermal Dysplasia Type 1 Genetic Test TEST-2935 LOINC 82939-0 This test evaluates the IFT122 gene for pathogenic variants associated with Cranioectodermal Dysplasia Type 1. Whole blood (EDTA) or FTA card 3–4 weeks 2,800.00 AED Details
IFT43 Gene Cranioectodermal Dysplasia Type 3 Genetic Test TEST-2932 LOINC 82939-0 This test identifies pathogenic variants in the IFT43 gene, confirming a diagnosis of cranioectodermal dysplasia type 3. Peripheral Whole Blood (EDTA tube) 3–4 Weeks 2,800.00 AED Details
IFT80 Gene Short-Rib Thoracic Dysplasia Type 2 with or without Polydactyly Genetic Test TEST-2309 LOINC 81337-7 This test evaluates the IFT80 gene for mutations associated with Short-Rib Thoracic Dysplasia Type 2 (SRTD2), a rare skeletal dysplasia. Peripheral whole blood or buccal swab 3–4 Weeks (Expedited available) 2,800.00 AED Details
IgH Gene Rearrangement by FISH for Multiple Myeloma (MM) Test TEST-1493 LOINC 49901-1 This diagnostic test evaluates chromosomal rearrangements within the immunoglobulin heavy chain (IgH) gene locus. Bone marrow aspirate or peripheral blood 3–4 working days 700.00 AED Details
IGHMBP2 Gene Distal Hereditary Motor Neuropathy Type 6 (dHMN6/SMARD1) Genetic Test TEST-5360 LOINC 21673-8 This genetic test evaluates the IGHMBP2 gene for variants associated with distal hereditary motor neuropathy type 6 (dHMN6) and severe spinal muscular... Peripheral Blood (Whole Blood) 3–4 Weeks 2,800.00 AED Details
IKBKG Gene (NEMO) Immunodeficiency Genetic Test TEST-4895 LOINC 81247-9 This genetic test identifies pathogenic variants in the IKBKG gene (NEMO) associated with specific immunodeficiency disorders and related conditions. Whole blood (EDTA), extracted DNA, or FTA card blood spot 3 – 4 weeks 2,800.00 AED Details
IKBKG Gene Incontinentia Pigmenti Type 2 Genetic Test TEST-4878 LOINC 55233-1 This test identifies pathogenic variants in the IKBKG gene associated with Incontinentia Pigmenti type 2. Whole Blood (Peripheral) 3–4 Weeks 2,800.00 AED Details
IL11RA Gene Craniosynostosis and Dental Anomalies Genetic Test TEST-2912 LOINC 55233-1 This test analyzes the IL11RA gene to detect variants linked to craniosynostosis and dental anomalies. Peripheral Whole Blood (EDTA) or FTA Card 3 to 4 Weeks 2,800.00 AED Details
IL12A Gene (Interleukin 12A Deficiency) Genetic Test TEST-4860 LOINC 55233-1 This test evaluates the IL12A gene for pathogenic variants associated with interleukin 12A deficiency, a primary immunodeficiency. Peripheral Whole Blood (3–5 mL EDTA) or Extracted DNA 3–4 Weeks 2,800.00 AED Details
IL36RN Gene (Generalized Pustular Psoriasis) Genetic Test TEST-4629 LOINC 94763-4 This test analyzes the IL36RN gene for pathogenic variants associated with Generalized Pustular Psoriasis (GPP). It identifies mutations that disrupt... Peripheral Whole Blood 3 – 4 Weeks 2,800.00 AED Details
INF2 Gene Focal Segmental Glomerulosclerosis Type 5 (FSGS5) Genetic Test TEST-3861 LOINC 21636-6 This test evaluates the INF2 gene for pathogenic variants associated with autosomal dominant focal segmental glomerulosclerosis type 5 (FSGS5). Peripheral Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Extracted DNA 3–4 Weeks 2,800.00 AED Details
INS Gene Maturity-Onset Diabetes of the Young Type 10 (MODY10) Genetic Test TEST-6084 LOINC 21636-6 This test evaluates the INS gene for mutations associated with Maturity-Onset Diabetes of the Young Type 10 (MODY10). Peripheral Blood 3–4 Weeks 2,800.00 AED Details
INS Gene Type 1 Diabetes Genetic Test TEST-6220 LOINC 77936-6 This test evaluates the insulin (INS) gene for pathogenic variants associated with early-onset Type 1 diabetes. Peripheral Whole Blood, Buccal Swab, or FTA Card 3–4 Weeks 2,800.00 AED Details
IRAK4 Gene Invasive Pneumococcal Disease (Recurrent, Isolated Type 1) Genetic Test TEST-4867 LOINC 81303-9 This genetic test evaluates the IRAK4 gene for variants associated with IRAK-4 deficiency, a primary immunodeficiency. Whole blood (EDTA), extracted genomic DNA, or FTA card dried blood spot 3 to 4 weeks 2,800.00 AED Details
ISCU Gene‑Related Hereditary Myopathy with Lactic Acidosis Genetic Test TEST-3981 LOINC 21669-6 This genetic test analyzes the ISCU gene for pathogenic variants associated with hereditary myopathy and lactic acidosis. Peripheral whole blood (EDTA tube) 3–4 weeks 2,800.00 AED Details
ISG15 Gene Immunodeficiency Type 38 Genetic Test TEST-4904 LOINC 81265-3 This genetic test evaluates the ISG15 gene for pathogenic variants associated with primary immunodeficiency type 38 (MSMD). It employs next-generation... Peripheral Whole Blood 3–4 weeks 2,800.00 AED Details
ITGA2 (Glycoprotein Ia) C807T Polymorphism Test TEST-4047 LOINC 21679-5 This test evaluates the ITGA2 C807T polymorphism, a genetic variant influencing platelet function and thrombosis risk. Peripheral Whole Blood (EDTA) or FTA Card Finger-Prick 3–4 Weeks 2,800.00 AED Details
ITGA2B (CD61) Gene Neonatal Alloimmune Thrombocytopenia Genetic Test TEST-3135 LOINC 82114-0 This genetic test analyzes the ITGA2B gene to identify mutations associated with neonatal alloimmune thrombocytopenia (NAIT). Peripheral Blood (Whole Blood, EDTA), Cheek Swab (Buccal Mucosa), or Dried Blood Spot on FTA Card 3 to 4 Weeks 2,800.00 AED Details
ITPR1 Gene Gillespie Syndrome Genetic Test TEST-3638 LOINC 94497-5 This test uses Next-Generation Sequencing (NGS) to analyze the ITPR1 gene for variants associated with Gillespie syndrome. Whole blood (EDTA tube), extracted genomic DNA (≥1 µg), or dried blood spot on FTA card 3–4 weeks from sample receipt 2,800.00 AED Details
ITPR1 Gene Spinocerebellar Ataxia Type 29 (SCA29) Genetic Test TEST-5781 LOINC 82317-1 This test detects pathogenic variants in the ITPR1 gene, which are responsible for causing Spinocerebellar Ataxia Type 29 (SCA29). Whole Blood, FTA Card, or Extracted DNA 3–4 Weeks 2,800.00 AED Details
IYD Gene Thyroid Dyshormonogenesis Type 4 NGS Genetic Analysis Test TEST-3504 LOINC 94836-5 This test identifies pathogenic variants in the IYD gene associated with thyroid dyshormonogenesis type 4. Whole Blood (Peripheral) 3–4 weeks 2,800.00 AED Details
KARS1 Gene CMTRIB Genetic Test TEST-4063 LOINC 94219-8 This genetic test evaluates the KARS1 gene for mutations associated with Charcot-Marie-Tooth disease type RIB (CMTRIB), a hereditary peripheral neurop... Peripheral whole blood 3–4 Weeks 2,800.00 AED Details
KAT6B Gene Genitopatellar Syndrome Genetic Test TEST-2821 LOINC 96205-0 This genetic test identifies pathogenic mutations within the KAT6B gene associated with Genitopatellar Syndrome and related disorders. Peripheral whole blood (EDTA) or dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
KBTBD13 Gene Nemaline Myopathy Type 6 Genetic Test TEST-5397 LOINC 81247-9 This test identifies genetic variants in the KBTBD13 gene associated with Nemaline Myopathy Type 6. Whole Blood, Extracted DNA, or FTA Card 3 to 4 Weeks 2,800.00 AED Details
KCNH2 Gene Long QT Syndrome Type 2 Genetic Test TEST-4211 LOINC 21614-3 This test identifies pathogenic variants in the KCNH2 gene associated with Long QT Syndrome Type 2 (LQT2). Whole Blood (EDTA) or FTA Card 3–4 Weeks 2,800.00 AED Details
KCNJ1 Gene Bartter Syndrome Type 2 Genetic Test TEST-3875 LOINC 69040-7 This test analyzes the KCNJ1 gene for mutations associated with Bartter syndrome type 2. Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
KCNJ11 Gene Hyperinsulinemic Hypoglycemia Type 2 Genetic Test TEST-6181 LOINC 48296-0 This genetic test identifies pathogenic variants in the KCNJ11 gene associated with hyperinsulinemic hypoglycemia type 2. Peripheral whole blood (EDTA) 21–28 calendar days 2,800.00 AED Details
KCNJ5 Gene Hyperaldosteronism Type 3 Genetic Test TEST-3755 LOINC 94802-9 This NGS-based genetic test detects pathogenic variants in the KCNJ5 gene causative of familial hyperaldosteronism type III (FH-III). It enables preci... Whole blood (EDTA, 3–5 mL), FTA card dried blood spot, or extracted genomic DNA (≥1 µg) 21–28 Days (3–4 Weeks) from sample receipt 2,800.00 AED Details
KCNMA1 Gene Epilepsy & Paroxysmal Dyskinesia Genetic Test TEST-4433 LOINC 51955-5 This genetic test evaluates the KCNMA1 gene for pathogenic variants associated with epilepsy and paroxysmal dyskinesia. Peripheral Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED Details
KCNQ1 Gene Short QT Syndrome Type 2 Genetic Test TEST-4117 LOINC 21636-6 This genetic test evaluates the KCNQ1 gene for pathogenic variants associated with Short QT Syndrome Type 2. Whole blood, extracted DNA, or FTA card (peripheral blood) 3–4 weeks 2,800.00 AED Details
KCTD7 Gene Genetic Test for Progressive Myoclonus Epilepsy Type 3 (EPM3) TEST-5546 LOINC 42629-7 This test detects pathogenic variants in the KCTD7 gene to confirm a diagnosis of Progressive Myoclonus Epilepsy Type 3 (EPM3). Whole Blood (EDTA tube), Extracted DNA (≥1µg, A260/280 1.8‑2.0), or FTA Card 3–4 Weeks 2,800.00 AED Details
KDR Gene Hemangioma Susceptibility Genetic Test TEST-2050 LOINC 55233-1 This test evaluates the KDR gene for variants associated with an increased risk of developing familial infantile capillary hemangioma. Peripheral Whole Blood or DNA FTA Card 3–4 Weeks 2,800.00 AED Details
KHDC3L Gene Sequencing for Recurrent Hydatidiform Mole (Type 2) Test TEST-3412 LOINC 82978-8 This test evaluates the KHDC3L gene for pathogenic variants linked to recurrent hydatidiform mole type 2. Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
KIF11 Gene Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation (MCLMR) Genetic Test TEST-2578 LOINC 81421-7 This test detects pathogenic variants within the KIF11 gene associated with Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Reta... Peripheral whole blood (2-3 mL EDTA) or dry blood spot (FTA card) 3-4 weeks from sample receipt 2,800.00 AED Details
KIF2A Gene Neurodevelopmental Malformation and Microcephaly Genetic Test TEST-5337 LOINC 93327-5 This genetic test evaluates the KIF2A gene for pathogenic variants associated with neurodevelopmental malformations and microcephaly. Whole Blood (EDTA) or Buccal Swab (FTA Card) 3 to 4 Weeks 2,800.00 AED Details
KIF5A Gene SPG10 Genetic Test TEST-5719 LOINC 95035-4 This test identifies pathogenic variants in the KIF5A gene associated with autosomal dominant hereditary spastic paraplegia type 10 (SPG10). Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
KISS1R Gene Hypogonadotropic Hypogonadism Genetic Test TEST-3729 LOINC 81247-9 This genetic test detects pathogenic variants in the KISS1R gene associated with congenital hypogonadotropic hypogonadism. Peripheral blood or FTA card (dried blood spot) 3–4 Weeks 2,800.00 AED Details
KLF8 Gene Non-Syndromic Intellectual Disability Genetic Test TEST-4779 LOINC 48018-3 This genetic test evaluates the KLF8 gene for pathogenic variants associated with non-syndromic intellectual disability. Whole Blood (EDTA), Dried Blood Spot (FTA Card), or High-Quality Extracted Genomic DNA 21–28 Working Days 2,800.00 AED Details
KLHL3 Gene Pseudohypoaldosteronism Type 2D Genetic Test TEST-4007 LOINC 94219-0 This genetic test analyzes the KLHL3 gene to identify variants associated with Pseudohypoaldosteronism Type 2D, a form of monogenic hypertension. Peripheral whole blood (EDTA) 3 – 4 weeks 2,800.00 AED Details
KLK4 Gene Amelogenesis Imperfecta Type 2A1 Genetic Test TEST-5444 LOINC 77634-5 This genetic test identifies pathogenic variants in the KLK4 gene associated with autosomal recessive Amelogenesis Imperfecta Type 2A1. Whole Blood (FTA Card or Venipuncture) 3–4 Weeks 2,800.00 AED Details
KMT2A Gene (Wiedemann-Steiner Syndrome) Genetic Test TEST-2173 LOINC 92915-6 This genetic test identifies pathogenic variants in the KMT2A gene, confirming the diagnosis of Wiedemann-Steiner syndrome. Peripheral whole blood (3-5 ml in EDTA tube) or FTA card 3 to 4 Weeks 2,800.00 AED Details
KRIT1 Gene Cerebral Cavernous Malformations Type 1 Genetic Test TEST-4060 LOINC 77415-0 This test identifies pathogenic variants in the KRIT1 gene associated with familial cerebral cavernous malformations type 1. Peripheral whole blood, extracted DNA, or FTA card blood spot 3-4 weeks 2,800.00 AED Details
KRT2 Gene (Ichthyosis, Bullous Type) Genetic Test TEST-4983 LOINC 51918-6 This genetic test sequences the KRT2 gene to detect variants associated with epidermolytic ichthyosis (bullous type). Peripheral Whole Blood or Extracted DNA 3–4 Weeks 2,800.00 AED Details
KRT6A Gene Pachyonychia Congenita Type 3 Genetic Test TEST-4677 LOINC 82939-0 This genetic test identifies mutations in the KRT6A gene associated with pachyonychia congenita type 3. Peripheral Whole Blood (3–5 mL in EDTA tube) or Extracted DNA 21 – 28 Days 2,800.00 AED Details
KRT6B Gene Pachyonychia Congenita Type 4 Genetic Test TEST-4655 LOINC 94851-8 This genetic test evaluates the keratin 6B gene for pathogenic variants associated with Pachyonychia Congenita Type 4. Whole blood (peripheral), extracted DNA, or one‑drop blood on FTA card 3–4 weeks 2,800.00 AED Details
KRT74 Gene Hypotrichosis Type 3 Genetic Test TEST-4986 LOINC 55233-1 This genetic test identifies pathogenic variants in the KRT74 gene associated with autosomal recessive hypotrichosis type 3. Blood or FTA Card (Peripheral Blood) 3 to 4 Weeks 2,800.00 AED Details
LAMB3 Gene Amelogenesis Imperfecta Type 1A Genetic Test TEST-5414 LOINC 21663-3 This genetic test identifies pathogenic variants in the LAMB3 gene associated with Junctional Epidermolysis Bullosa (JEB) with Amelogenesis Imperfecta... Whole Blood (EDTA) or FTA Card 3–4 Weeks 2,800.00 AED Details
LAMC1 Gene Dandy-Walker Malformation & Occipital Cephalocele NGS Test TEST-2889 LOINC 95613-8 This test identifies pathogenic variants in the LAMC1 gene associated with Dandy-Walker malformation and occipital cephaloceles. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
LAMC2 Gene Epidermolysis Bullosa, Junctional Genetic Test TEST-5113 LOINC 21663-7 This test identifies pathogenic variants in the LAMC2 gene associated with Junctional Epidermolysis Bullosa (Herlitz type). Peripheral whole blood (EDTA tube), extracted genomic DNA, or FTA card specimen 3 to 4 weeks 2,800.00 AED Details
LAMP2 Gene Danon Disease Genetic Test TEST-4173 LOINC 82939-0 This test evaluates the LAMP2 gene for variants associated with Danon disease, a rare X-linked dominant glycogen storage disorder. Whole Blood (EDTA) or FTA Card 3–4 Weeks 2,800.00 AED Details
LAMTOR2 Gene Sequencing (p14/MP1) for Primary Immunodeficiency Syndrome Test TEST-4942 LOINC 21694-0 This test identifies pathogenic variants in the LAMTOR2 gene associated with a rare primary immunodeficiency syndrome. Peripheral Whole Blood, Dried Blood Spot (FTA Card) 3–4 Weeks (Expedited 14-day option available) 2,800.00 AED Details
LDB3 Gene Myofibrillar Myopathy (ZASP‑Related) Genetic Test TEST-5361 LOINC 55233-1 This test identifies pathogenic mutations in the LDB3 (ZASP) gene associated with myofibrillar myopathy. Peripheral Whole Blood (5 mL in EDTA tube), Buccal Swab, or FTA Blood Spot Card 3–4 Weeks 2,800.00 AED Details
LDHA Gene (Glycogen Storage Disease Type 11) Test TEST-6354 LOINC 94272-7 This test detects pathogenic variants in the LDHA gene, which are responsible for causing Glycogen Storage Disease Type 11 (GSD XI). Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3 to 4 Weeks 2,800.00 AED Details
LDLRAP1 Genetic Testing for Autosomal Recessive Hypercholesterolemia Test TEST-6201 LOINC 103176-0 This test identifies genetic mutations in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia. Peripheral Blood or Saliva (DNA Extraction) 3–4 Weeks 2,800.00 AED Details
LEP Gene Obesity due to Leptin Deficiency Genetic Test TEST-3581 LOINC 21621-4 This test identifies pathogenic variants in the LEP gene associated with congenital leptin deficiency. Peripheral Whole Blood or FTA Card 14-21 Business Days 2,800.00 AED Details
LHCGR Gene Mutation Analysis (NGS) for Male Precocious Puberty Test TEST-3570 LOINC 21636-6 This diagnostic test evaluates the LHCGR gene for activating mutations associated with familial male-limited precocious puberty (testotoxicosis). Peripheral blood or FTA card (dried blood spot) 3–4 Weeks 2,800.00 AED Details
LHX3 Gene Pituitary Hormone Deficiency, Combined Type 3 Genetic Test TEST-3550 LOINC 92309-2 This genetic test identifies pathogenic variants in the LHX3 gene associated with combined pituitary hormone deficiency type 3 (CPHD3). Whole blood (EDTA), extracted DNA, or FTA card 3–4 weeks 2,800.00 AED Details
LIM2 Gene Cataract, Cortical Pulverulent, Late-Onset Genetic Test TEST-3555 LOINC 94494-6 This genetic test evaluates the LIM2 gene for pathogenic variants associated with late-onset cortical pulverulent cataract. Whole Blood (EDTA), Extracted DNA, or FTA Card Spot 3–4 Weeks 2,800.00 AED Details
LIPH Gene Hypotrichosis Type 7 Genetic Test TEST-5002 LOINC 92822-6 This genetic test identifies pathogenic variants in the LIPH gene associated with autosomal recessive hypotrichosis type 7. Peripheral Whole Blood (EDTA) or Buccal Swab / Dried Blood Spot (FTA Card) 21–28 business days 2,800.00 AED Details
LIPT1 Gene Genetic Test for Leigh Syndrome & Alpha-Ketoglutarate Dehydrogenase Deficiencies TEST-4744 LOINC 94856-1 This test identifies genetic mutations in the LIPT1 gene associated with Leigh syndrome and related metabolic disorders. Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED Details
LMBRD1 Gene Methylmalonic Aciduria CblF Type Genetic Test TEST-5986 LOINC 55233-1 This test identifies pathogenic variants in the LMBRD1 gene associated with Methylmalonic Aciduria CblF type, a rare inherited metabolic disorder. Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card 3 to 4 Weeks 2,800.00 AED Details
LPAR6 Gene Hypotrichosis Type 8 Genetic Test TEST-4978 LOINC 21636-6 This genetic test identifies pathogenic variants in the LPAR6 gene associated with autosomal recessive hypotrichosis type 8. Peripheral Whole Blood (EDTA) 3–4 Weeks (21–28 Days) 2,800.00 AED Details
LRRC8A Gene Agammaglobulinemia Type 5 (Autosomal Recessive) Genetic Test TEST-3378 LOINC 94499-8 This test evaluates the LRRC8A gene for mutations associated with autosomal recessive agammaglobulinemia type 5, a primary immunodeficiency. Peripheral Whole Blood (EDTA tube) or Extracted DNA 3–4 Weeks (Expedited Available) 2,800.00 AED Details
LTBP2 Gene Glaucoma Primary Type 3D Genetic Test TEST-3678 LOINC 81247-9 This test evaluates the LTBP2 gene for mutations associated with primary congenital glaucoma. Peripheral whole blood – EDTA tube (3–5 ml) 3–4 weeks (21–28 calendar days) 2,800.00 AED Details
LYRM4 Gene Combined Oxidative Phosphorylation Deficiency Type 19 Genetic Test TEST-6243 LOINC 21636-6 This test identifies pathogenic variants in the LYRM4 gene associated with Combined Oxidative Phosphorylation Deficiency Type 19 (COXPD19). Peripheral whole blood (3–5 mL) or dried blood spot (FTA card) 3 to 4 weeks 2,800.00 AED Details
Lysosomal Storage Disorder Gene Panel Test TEST-1404 LOINC 81321-5 This test identifies pathogenic genetic variants in genes associated with lysosomal storage diseases. Peripheral Blood (3–5 mL), Amniotic Fluid, or Chorionic Villi 4–6 weeks 4,800.00 AED Details
LYST Gene Chediak‑Higashi Syndrome Genetic Test TEST-5295 LOINC 94042-4 This genetic test evaluates the entire coding region of the LYST gene for variants associated with Chediak-Higashi syndrome. Whole Blood, Extracted DNA, or Dried Blood Spot (FTA card) 3 to 4 weeks 2,800.00 AED Details
MACF1 Gene Neurodevelopmental Disorder (MACF1‑Related) Genetic Test TEST-5326 LOINC 94227-5 This genetic test analyzes the entire MACF1 gene to detect pathogenic variants associated with neurodevelopmental disorders. Peripheral whole blood 3–4 weeks from sample receipt 2,800.00 AED Details
MAF Gene Cataract (Pulverulent/Cerulean) with or without Microcornea Test TEST-3535 LOINC 81265-5 This genetic test identifies pathogenic variants within the MAF gene associated with congenital pulverulent or cerulean cataracts, with or without mic... Peripheral whole blood (EDTA) or FTA card 3–4 weeks from sample receipt 2,800.00 AED Details
MAOA Gene (Brunner Syndrome) Genetic Test TEST-3967 LOINC 82375-8 This test evaluates the MAOA gene for pathogenic variants associated with Brunner syndrome, characterized by impulsive aggression and intellectual dis... Whole Blood, Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
MAP2K1 Gene Analysis for Cardiofaciocutaneous Syndrome Type 3 (CFC3) Test TEST-4359 LOINC 77080-0 This test identifies pathogenic variants in the MAP2K1 gene associated with Cardiofaciocutaneous Syndrome Type 3 (CFC3). It uses Next-Generation Seque... Peripheral Whole Blood (EDTA) or Extracted DNA 14 – 21 Days 2,800.00 AED Details
MAP2K2 Gene Sequencing Test for Cardiofaciocutaneous Syndrome Type 4 (CFC4) TEST-4377 LOINC 21636-6 This test identifies pathogenic variants in the MAP2K2 gene, confirming a diagnosis of Cardiofaciocutaneous Syndrome Type 4 (CFC4). Peripheral whole blood or FTA card finger-prick 3–4 Weeks 2,800.00 AED Details
MBTPS2 Gene Analysis (Keratosis Follicularis Spinulosa Decalvans, X-Linked) Test TEST-4861 LOINC 81247-1 This test analyzes the MBTPS2 gene for pathogenic variants associated with X-linked Keratosis Follicularis Spinulosa Decalvans. Peripheral Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED Details
MCCC1 Gene 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency Genetic Test TEST-5922 LOINC 82309-2 This test identifies mutations in the MCCC1 gene associated with 3-methylcrotonyl-CoA carboxylase deficiency. Whole blood (venous) or dried blood spot (FTA card) 3–4 Weeks 2,800.00 AED Details
MCM4 Gene Immunodeficiency with Natural Killer Cell Deficiency Genetic Test TEST-3688 LOINC 94222-7 This genetic test evaluates the MCM4 gene for pathogenic variants associated with primary immunodeficiency affecting natural killer cell development a... Peripheral whole blood (3–5 mL EDTA tube) or FTA card dried blood spot 3 to 4 weeks from sample receipt 2,800.00 AED Details
MCM6 Gene Lactose Intolerance Adult Type Genetic Test TEST-6078 LOINC 94605-3 This genetic test evaluates the MCM6 gene for variants associated with adult-type lactase non-persistence (lactose intolerance). Whole blood, extracted DNA, or FTA card (dried blood spot) 3–4 Weeks 2,800.00 AED Details
MCOLN1 Gene Mucolipidosis Type IV (ML4) Genetic Test TEST-5945 LOINC 81346-7 This genetic test identifies pathogenic variants in the MCOLN1 gene, which are associated with Mucolipidosis Type IV (ML4). It is used for diagnosis,... Whole blood (EDTA), extracted DNA, or FTA card blood spot 3–4 weeks (expedited option available) 2,800.00 AED Details
MDM2 Gene (Accelerated Tumor Formation Susceptibility) Genetic Test TEST-3400 LOINC 90542-4 This genetic test evaluates the MDM2 gene for variants associated with an increased susceptibility to developing certain types of cancer. Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Extracted DNA (≥1 µg) 21–28 calendar days 2,800.00 AED Details
MDM2 Gene Amplification FISH Test TEST-1394 LOINC 21795-0 This diagnostic test evaluates the number of copies of the MDM2 gene in tumor tissue using Fluorescence In-Situ Hybridization (FISH). It specifically... Archival Tissue Specimen (FFPE Block or Slides) 7–8 working days 1,200.00 AED Details
MECP2 Gene Analysis (CCHS) Test TEST-2989 LOINC 53044-2 This test identifies pathogenic variants in the MECP2 gene associated with congenital central hypoventilation syndrome (CCHS). Peripheral whole blood (EDTA) 3–4 weeks 2,800.00 AED Details
MECP2 Gene Duplication Syndrome (Lubs Type) Genetic Test TEST-4793 LOINC 82117-7 This genetic test analyzes the MECP2 gene for duplications, deletions, and point mutations to diagnose Lubs syndrome. Peripheral whole blood (EDTA), Dried blood spot (FTA card), Extracted DNA 3–4 weeks 2,800.00 AED Details
MED12 Gene Sequencing for Opitz-Kaveggia Syndrome (NGS) Test TEST-2475 LOINC 81231-1 This test identifies mutations within the MED12 gene associated with Opitz-Kaveggia syndrome. Whole Blood or Dried Blood Spot (FTA Card) 3–4 weeks 2,800.00 AED Details
MED23 Gene Autosomal Recessive Intellectual Disability Type 18 (MRT18) Genetic Test TEST-4858 LOINC 93859-0 This genetic test identifies pathogenic variants, including deletions and duplications, within the MED23 gene associated with autosomal recessive inte... Whole blood (EDTA), extracted DNA, or FTA card 3–4 weeks (fast-track available upon request) 2,800.00 AED Details
MEFV Full Gene Sequencing Test TEST-1606 LOINC 81247-9 This test identifies mutations within the MEFV gene associated with Familial Mediterranean Fever. Peripheral whole blood (EDTA tube) 4–6 weeks 4,800.00 AED Details
MEFV Gene Familial Mediterranean Fever Genetic Test TEST-6006 LOINC 56762-6 This test evaluates the MEFV gene for mutations associated with Familial Mediterranean Fever (FMF). It uses Next-Generation Sequencing (NGS) to provid... Whole Blood (EDTA) or DNA Sample (FTA Card) 3 to 4 Weeks 2,800.00 AED Details
Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC Gene Hotspot Mutation) Test TEST-2502 LOINC 92838-9 This test identifies specific hotspot mutations in the MLC1 gene associated with Van der Knaap disease. Peripheral whole blood 5 working days 1,200.00 AED Details
MEOX1 Gene Klippel-Feil Syndrome Type 2 Autosomal Dominant Genetic Test TEST-2680 LOINC 81411-9 This test identifies pathogenic variants in the MEOX1 gene to confirm the diagnosis of Klippel-Feil syndrome type 2. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
MERRF Mutation Detection Test TEST-2505 LOINC 83991-2 This test detects specific pathogenic mutations in mitochondrial DNA associated with MERRF syndrome. Peripheral whole blood 10 working days 2,500.00 AED Details
MFSD8 Gene Ceroid Lipofuscinosis Neuronal Type 7 Genetic Test TEST-6186 LOINC 47896-1 This test evaluates the MFSD8 gene for pathogenic variants associated with Neuronal Ceroid Lipofuscinosis Type 7 (CLN7). It identifies mutations causi... Peripheral Whole Blood (EDTA) or Saliva 3 to 4 weeks 2,800.00 AED Details
MIB1 Gene LVNC7 Genetic Test TEST-4226 LOINC 90508-2 This test evaluates the MIB1 gene for pathogenic variants linked to Left Ventricular Noncompaction Type 7 (LVNC7). Peripheral whole blood or extracted DNA (3–5 mL EDTA blood) 3–4 weeks 2,800.00 AED Details
MICU1 Gene Myopathy with Extrapyramidal Signs Genetic Test TEST-5328 LOINC 21636-6 This test evaluates the entire coding region of the MICU1 gene for pathogenic variants associated with MICU1-related myopathy and extrapyramidal signs... Peripheral whole blood (3–5 mL in EDTA tube); alternative buccal swab accepted with prior approval 3–4 weeks from sample receipt 2,800.00 AED Details
MKKS Gene McKusick-Kaufman Syndrome Genetic Test TEST-3697 LOINC 55229-6 This test evaluates the MKKS gene for pathogenic variants associated with McKusick-Kaufman syndrome. Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot 3 to 4 Weeks 2,800.00 AED Details
MKS1 Gene (Meckel Syndrome Type 1) Genetic Test TEST-3650 LOINC 81278-7 This test identifies pathogenic variants within the MKS1 gene associated with Meckel syndrome type 1. Blood, extracted DNA, or FTA card specimen 3–4 Weeks 2,800.00 AED Details
MLC1 Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts Genetic Test TEST-4767 LOINC 94233-3 This genetic test detects pathogenic variants in the MLC1 gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC). Whole Blood, Extracted DNA, FTA Card 3–4 weeks 2,800.00 AED Details
MLH1 Gene Genetic Test for Muir-Torre Syndrome TEST-1972 LOINC 82533-7 This test evaluates the MLH1 gene for mutations associated with hereditary cancer predisposition syndromes like Lynch syndrome and Muir-Torre syndrome... Peripheral whole blood (3-5 mL in EDTA tube) 3-4 weeks 2,800.00 AED Details
MMACHC Gene Methylmalonic Aciduria CblC Type Genetic Test TEST-5989 LOINC 86565-2 This genetic test identifies pathogenic variants in the MMACHC gene associated with methylmalonic aciduria and homocystinuria, cblC type. Whole Blood (EDTA) or Dried Blood Spot (FTA Card) 3 to 4 Weeks 2,800.00 AED Details
MMP1 Gene (Epidermolysis Bullosa Dystrophica Modifier) Genetic Test TEST-5177 LOINC 81247-9 This genetic test identifies variants in the MMP1 gene that modify the severity of autosomal recessive dystrophic epidermolysis bullosa (RDEB). Whole Blood, Dried Blood Spot (FTA Card), Extracted DNA 3 – 4 Weeks 2,800.00 AED Details
MMP21 Gene Heterotaxy, Visceral Type 7 Test TEST-2774 LOINC 21669-6 This test identifies pathogenic variants in the MMP21 gene associated with heterotaxy visceral type 7, a congenital disorder affecting organ arrangeme... Whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency Genetic Test TEST-5960 LOINC 21636-7 This genetic test evaluates the entire coding region of the MPC1 gene for pathogenic variants associated with mitochondrial pyruvate carrier deficienc... Whole Blood, Extracted DNA, or Dried Blood Spot (DBS) on FTA Card 3 to 4 Weeks 2,800.00 AED Details
MPI Gene Glycosylation Disorder Type 1B Genetic Test TEST-6321 LOINC 94233-5 This genetic test identifies pathogenic variants in the MPI gene associated with Congenital Disorder of Glycosylation Type 1B (CDG-Ib). Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card 3 to 4 Weeks 2,800.00 AED Details
MPZ Full Length Gene Sequence Analysis (Charcot‑Marie‑Tooth Disease) Test TEST-1328 LOINC 81319-6 This test analyzes the entire MPZ gene to detect pathogenic variants associated with Charcot‑Marie‑Tooth disease type 1B. Peripheral Blood 3-4 weeks 4,000.00 AED Details
MRE11 Gene Ataxia-Telangiectasia-Like Disorder Genetic Test TEST-3822 LOINC 82939-0 This genetic test identifies pathogenic variants in the MRE11 gene, confirming a diagnosis of Ataxia-Telangiectasia-Like Disorder (ATLD). Peripheral whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
MRPL3 Gene Genetic Test for Combined Oxidative Phosphorylation Deficiency Type 9 TEST-6173 LOINC 94047-2 This test identifies pathogenic variants in the MRPL3 gene associated with Combined Oxidative Phosphorylation Deficiency Type 9. Peripheral whole blood (3–5 mL in EDTA tube), extracted genomic DNA, or dried blood spot on FTA card 21–28 calendar days 2,800.00 AED Details
MT-CO2 Gene (Cytochrome c Oxidase 2 Deficiency) Genetic Test TEST-4165 LOINC 91716-1 This test identifies pathogenic variants in the MT-CO2 gene, which are associated with cytochrome c oxidase deficiency and related neurological disord... Blood, Extracted DNA, FTA Card 3 to 4 Weeks 2,800.00 AED Details
MT-TE Gene Mitochondrial Myopathy (Infantile, Transient) Test TEST-4177 LOINC 81261-8 This test evaluates the MT-TE gene for pathogenic variants associated with infantile transient mitochondrial myopathy. Whole blood (peripheral venipuncture) or dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
MT-TK Gene Analysis (MERRF Syndrome) Test TEST-4802 LOINC 58274-6 This test analyzes the entire MT-TK mitochondrial gene to detect pathogenic variants associated with MERRF syndrome. Whole blood (EDTA), extracted DNA, or FTA card 3 to 4 weeks 2,800.00 AED Details
MT‑CYB Gene Mitochondrial Encephalomyopathy Genetic Test TEST-5112 LOINC 101357-6 This test evaluates the MT‑CYB gene for pathogenic variants associated with mitochondrial encephalomyopathy (Complex III deficiency). Whole Blood (EDTA) or Extracted Genomic DNA 3–4 weeks 2,800.00 AED Details
MT‑TV Gene Sequencing (NGS) for Ataxia, Progressive Seizures, Mental Deterioration & Hearing Loss Test TEST-3857 LOINC 94306-8 This diagnostic test evaluates the MT‑TV gene for mutations associated with progressive neurological symptoms. Peripheral whole blood 14–21 working days 2,800.00 AED Details
MTAP Gene Myopathy, Limb Girdle with Bone Fragility Genetic Test TEST-5350 LOINC 81263-9 This test identifies pathogenic variants in the MTAP gene associated with limb-girdle muscular dystrophy and bone fragility. Whole Blood, Extracted DNA, One Drop Blood on FTA Card 3–4 weeks from sample receipt 2,800.00 AED Details
MTRR Gene (Homocystinuria-Megaloblastic Anemia, cblE Type) Genetic Test TEST-4039 LOINC 81318-0 This test evaluates the MTRR gene for pathogenic variants associated with cblE-type homocystinuria-megaloblastic anemia. Whole Blood (Peripheral) 3–4 Weeks 2,800.00 AED Details
MYD88 Gene Recurrent Pyogenic Bacterial Infections Due to MYD88 Deficiency Genetic Test TEST-4597 LOINC 21636-6 This genetic test identifies pathogenic variants in the MYD88 gene associated with primary immunodeficiency. Peripheral whole blood (3–5 mL in EDTA tube), extracted genomic DNA, or dried blood spot on FTA card. 3–4 Weeks from sample receipt 2,800.00 AED Details
MYH3 Gene Distal Arthrogryposis Type 2B (DA2B) Genetic Test TEST-5377 LOINC 77998-9 This genetic test evaluates the MYH3 gene for pathogenic variants associated with Distal Arthrogryposis Type 2B (DA2B). Peripheral Whole Blood, Extracted DNA, or FTA Card Blood Spot 3–4 weeks 2,800.00 AED Details
MYH6 Gene (Sick Sinus Syndrome Type 3) Genetic Test TEST-4141 LOINC 102384-2 This test detects pathogenic variants in the MYH6 gene associated with sick sinus syndrome type 3. Peripheral whole blood (EDTA) or dried blood spot (FTA card) 3–4 Weeks 2,800.00 AED Details
MYLK Gene Familial Thoracic Aortic Aneurysm Type 7 Genetic Test TEST-4057 LOINC 82847-8 This test analyzes the MYLK gene for mutations linked to familial thoracic aortic aneurysm type 7, a hereditary condition increasing the risk of aorti... Whole Blood (EDTA Tube) or FTA Card Blood Spot 3–4 Weeks 2,800.00 AED Details
Myotonic Dystrophy Type 1 (DM1) Genetic Test TEST-2644 LOINC 94123-0 This test detects and quantifies CTG trinucleotide repeat expansions in the DMPK gene, confirming the diagnosis of Myotonic Dystrophy Type 1. Peripheral whole blood 4-5 business days (sample by Monday 11 AM for Friday results) 1,500.00 AED Details
Myotonic Dystrophy Type 2 (DM2) Genetic Test TEST-2621 LOINC 84512-0 This test identifies the CCTG repeat expansion in the CNBP gene, which is the genetic cause of Myotonic Dystrophy Type 2 (DM2). It provides a definiti... Peripheral whole blood (4 mL EDTA tube) 5 business days (sample received Monday by 11 am → report by Friday) 1,500.00 AED Details
NAFLD Genetic Susceptibility Panel (PNPLA3 & TM6SF2 Genotyping) Test TEST-2650 LOINC 78051-5 This test identifies genetic variants (PNPLA3 I148M and TM6SF2 E167K) associated with an increased risk of developing progressive NAFLD, NASH, and fib... Peripheral whole blood (lavender-top EDTA tube) 3–4 business days (Sample Mon/Thu by 9 AM → Report Wed/Sat) 850.00 AED Details
NAGA Gene Schindler Disease Genetic Test TEST-5882 LOINC 81730-9 This genetic test identifies pathogenic variants in the NAGA gene associated with Schindler disease (Types I and III). It is used for diagnosis, carri... Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA Card) 15–21 Working Days 2,800.00 AED Details
NBAS Gene Infantile Liver Failure Syndrome Type 2 Genetic Test TEST-3727 LOINC 101328-1 This genetic test evaluates the NBAS gene for pathogenic variants associated with Infantile Liver Failure Syndrome Type 2 (ILFS2). Whole blood (EDTA) or FTA card 3–4 weeks 2,800.00 AED Details
NDRG1 Gene CMT4D Genetic Test TEST-4097 LOINC 94548-7 This genetic test identifies mutations in the NDRG1 gene associated with Charcot-Marie-Tooth disease type 4D (CMT4D). Peripheral Whole Blood, Extracted DNA, or FTA Card 3 to 4 weeks 2,800.00 AED Details
NDUFA1 Gene Mitochondrial Complex I Deficiency NGS Test TEST-5124 LOINC 99530-0 This test identifies pathogenic variants within the NDUFA1 gene, which are associated with mitochondrial complex I deficiency and related neurological... Peripheral whole blood or Buccal swab / FTA card 3–4 weeks 2,800.00 AED Details
NDUFA10 Gene Leigh Syndrome Genetic Test TEST-4625 LOINC 21638-7 This test identifies pathogenic variants within the NDUFA10 gene, a primary cause of Leigh syndrome. Peripheral Whole Blood (Venipuncture) 3 – 4 Weeks 2,800.00 AED Details
NDUFA12 Gene Analysis (Leigh Syndrome, Complex I Deficiency) Test TEST-4659 LOINC 81247-9 This test identifies pathogenic variants in the NDUFA12 gene, which are associated with Leigh syndrome (mitochondrial complex I deficiency). It uses n... Whole Blood (EDTA) or FTA Card for Infants 3 to 4 Weeks 2,800.00 AED Details
NDUFB3 Gene Mitochondrial Complex I Deficiency Genetic Test TEST-5137 LOINC 94265-1 This genetic test analyzes the NDUFB3 gene to detect mutations associated with mitochondrial Complex I deficiency. Peripheral whole blood (EDTA tube or FTA card) 21 calendar days 2,800.00 AED Details
NDUFS2 Gene Test TEST-5139 LOINC 81328-7 This test evaluates the NDUFS2 gene for mutations associated with mitochondrial complex I deficiency. Whole Blood (EDTA) or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
NDUFS4 Gene Sequencing (Mitochondrial Complex I Deficiency) Test TEST-5040 LOINC 94060-0 This test evaluates the NDUFS4 gene for pathogenic variants associated with mitochondrial complex I deficiency. Peripheral whole blood (3–5 mL in EDTA tube) or FTA card (dried blood spot) 3–4 Weeks 2,800.00 AED Details
NEFH Gene Amyotrophic Lateral Sclerosis Susceptibility Genetic Test TEST-3799 LOINC 21623-1 This test evaluates the NEFH gene for variants associated with an increased risk of developing Amyotrophic Lateral Sclerosis (ALS). Peripheral Whole Blood, Extracted DNA, or FTA Card (Dried Blood Spot) 3–4 Weeks 2,800.00 AED Details
NEK1 Gene Sequencing (Short-Rib Thoracic Dysplasia Type 6 ± Polydactyly) Test TEST-2301 LOINC 93442-0 This test identifies pathogenic variants in the NEK1 gene associated with Short-Rib Thoracic Dysplasia Type 6 (SRTD6). It utilizes Next-Generation Seq... Whole Blood (EDTA) or FTA Card (Neonatal Heel-Stick) 3–4 Weeks 2,800.00 AED Details
NEXN Gene Dilated Cardiomyopathy Type 1CC Genetic Test TEST-4362 LOINC 92742-5 This genetic test detects pathogenic variants in the NEXN gene associated with hereditary dilated cardiomyopathy type 1CC. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
Next-Generation Sequencing (NGS) for Adrenoleukodystrophy (ALD) Test TEST-2699 LOINC 59432-9 This test evaluates the ABCD1 gene for pathogenic variants associated with X-linked adrenoleukodystrophy (ALD) and related peroxisomal disorders. Whole Blood 40 Working Days 2,600.00 AED Details
Next-Generation Sequencing (NGS) for Retinitis Pigmentosa (RP) Test TEST-2772 LOINC 95938-3 This test identifies genetic mutations in over 80 genes associated with Retinitis Pigmentosa. Peripheral whole blood 45 working days 3,200.00 AED Details
Next-Generation Sequencing (NGS) Hereditary Retinoblastoma Test TEST-2733 LOINC 21644-2 This test identifies germline mutations within the RB1 gene associated with hereditary retinoblastoma. Whole Blood 45 working days 3,200.00 AED Details
Next-Generation Sequencing: Alexander Disease Test TEST-2721 LOINC 82313-0 This test identifies mutations in the GFAP gene associated with Alexander disease, a rare neurodegenerative disorder. Peripheral Whole Blood 40 working days (approximately 8 weeks) 2,600.00 AED Details
Next‑Generation Sequencing (NGS) Alzheimer’s Disease Genetic Test TEST-2724 LOINC 101260-9 This diagnostic test evaluates for pathogenic variants in genes associated with Alzheimer's disease risk (APP, PSEN1, PSEN2) and the APOE genotype. Peripheral Whole Blood 40 Working Days 2,600.00 AED Details
Next‑Generation Sequencing (NGS) for Dementia Genetic Testing Test TEST-2722 LOINC 89359-8 This test identifies pathogenic variants in genes linked to Alzheimer's disease, frontotemporal dementia, Lewy body dementia, and other neurodegenerat... Whole blood (10 mL, 5 mL min.) in 2 Lavender Top EDTA tubes 40 working days 2,600.00 AED Details
Next‑Generation Sequencing (NGS) for Hereditary Cataract Test TEST-2716 LOINC 81409-5 This test identifies pathogenic DNA variants across all known genes associated with inherited lens opacities (cataracts). Peripheral Whole Blood (EDTA) 45 Working Days 3,200.00 AED Details
Next‑Generation Sequencing (NGS) Glaucoma Genetic Panel Test TEST-2753 LOINC 92855-7 This test evaluates genetic variants in over 20 genes associated with glaucoma risk. Whole Blood (Peripheral Venipuncture) 45 working days 3,200.00 AED Details
NHEJ1 Gene Sequencing for Severe Combined Immunodeficiency with Microcephaly, Growth Retardation & Radiosensitivity Test TEST-2338 LOINC 81247-9 This diagnostic test evaluates the NHEJ1 gene for pathogenic variants associated with severe combined immunodeficiency (SCID) and related clinical fea... Peripheral Whole Blood 3 to 4 Weeks 2,800.00 AED Details
NHP2 Gene Dyskeratosis Congenita, Autosomal Recessive Type 2 Genetic Test TEST-5240 LOINC 21636-6 This genetic test sequences the NHP2 gene to detect pathogenic variants associated with autosomal recessive dyskeratosis congenita type 2. Whole Blood, Extracted DNA, or One-Drop Blood on FTA Card 3–4 weeks 2,800.00 AED Details
NKX2-1 Gene Hereditary Benign Chorea Genetic Test TEST-3991 LOINC 49266-4 This test evaluates the NKX2-1 gene for pathogenic mutations associated with hereditary benign chorea. Whole Blood (Peripheral) or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
NLRP1 Gene Autoimmune Susceptibility Genetic Test TEST-4481 LOINC 82939-0 This genetic test evaluates the NLRP1 gene for variants associated with autoimmune susceptibility, particularly vitiligo. Peripheral blood, buccal swab, or FTA card 4 to 5 weeks 2,800.00 AED Details
NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia NGS Test TEST-3619 LOINC 94222-8 This diagnostic test evaluates the NLRP1 gene for pathogenic variants associated with corneal intraepithelial dyskeratosis and ectodermal dysplasia. Peripheral Whole Blood (also accepts extracted DNA / FTA card) 3–4 weeks 2,800.00 AED Details
NLRP12 Gene Sequencing for Cold Autoinflammatory Syndrome Type 2 (CAPS2) Test TEST-5321 LOINC 98238-5 This diagnostic test evaluates the NLRP12 gene for pathogenic variants associated with Cold Autoinflammatory Syndrome Type 2 (CAPS2). Whole Blood (EDTA) or Buccal Swab 3–4 Weeks 2,800.00 AED Details
NNT Gene Glucocorticoid Deficiency Type 4 (With or Without Mineralocorticoid Deficiency) Test TEST-6398 LOINC 81247-7 This test identifies genetic mutations in the NNT gene responsible for hereditary glucocorticoid deficiency type 4. Whole Blood (EDTA), Extracted Genomic DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
NOS3 (eNOS) Gene Alzheimer's Disease Susceptibility Test (NGS) TEST-3769 LOINC 21632-5 This test evaluates variants in the NOS3 gene associated with increased susceptibility to Alzheimer's disease. Peripheral whole blood or FTA card (buccal swab acceptable after consultation) 3–4 weeks 2,800.00 AED Details
NOTCH3 Mutation Detection (CADASIL) Test TEST-2697 LOINC 94212-5 This test detects pathogenic mutations in the NOTCH3 gene associated with CADASIL. Peripheral Whole Blood (EDTA) 5 Business Days 1,800.00 AED Details
NPHP1 Gene (Nephronophthisis Type 1) Genetic Test TEST-3621 LOINC 21636-6 This test identifies pathogenic variants in the NPHP1 gene associated with nephronophthisis type 1. Peripheral whole blood (EDTA), extracted DNA, or FTA card 3–4 weeks 2,800.00 AED Details
NPHS1 Gene Nephrotic Syndrome Type 2 Genetic Test TEST-3637 LOINC 81430-7 This test detects pathogenic variants in the NPHS1 gene associated with congenital nephrotic syndrome of the Finnish type. Peripheral Whole Blood (EDTA) or Extracted DNA 3–4 Weeks 2,800.00 AED Details
NPHS2 Gene Nephrotic Syndrome Genetic Test TEST-3596 LOINC 21665-8 This test analyzes the NPHS2 gene to detect pathogenic variants associated with steroid-resistant nephrotic syndrome (SRNS). It provides a definitive... Whole Blood (EDTA) or Buccal Swab 3–4 Weeks (18–28 days) 2,800.00 AED Details
NPPA Gene (Atrial Fibrillation, Familial Type 6) Genetic Test TEST-4439 LOINC 88878-8 This genetic test evaluates the NPPA gene for pathogenic variants associated with familial atrial fibrillation type 6. Peripheral whole blood (3–5 mL in EDTA tube) or buccal swab 3–4 Weeks 2,800.00 AED Details
NR0B1 Gene Adrenal Hypoplasia Genetic Test TEST-5973 LOINC 21626-2 This test identifies pathogenic variants in the NR0B1 gene, the primary cause of X-linked adrenal hypoplasia congenita (AHC). It confirms the diagnosi... Whole blood (EDTA tube), FTA card dried blood spot, or previously extracted DNA 3 to 4 Weeks 2,800.00 AED Details
NR1H4 Gene-Related Intrahepatic Cholestasis of Pregnancy (ICP) Test TEST-3723 LOINC 76386-8 This genetic test evaluates the NR1H4 gene for pathogenic variants associated with Intrahepatic Cholestasis of Pregnancy (ICP). Whole blood (EDTA) or Dried Blood Spot (FTA card) 3–4 Weeks 2,800.00 AED Details
NR2E1 Gene Polymicrogyria Bilateral Occipital Genetic Test TEST-2432 LOINC 94223-0 This genetic test identifies pathogenic variants in the NR2E1 gene associated with bilateral occipital polymicrogyria (BOP). Whole Blood (EDTA) or FTA Card 3 to 4 Weeks 2,800.00 AED Details
NR3C2 Gene Hypertension Early Onset Genetic Test TEST-3997 LOINC 93934-1 This test detects pathogenic variants in the NR3C2 gene associated with early-onset, salt-sensitive hypertension. Whole Blood / FTA Card / Extracted DNA 3–4 Weeks 2,800.00 AED Details
NR3C2 Gene Pseudohypoaldosteronism Type 1, Autosomal Dominant Genetic Test TEST-3563 LOINC 21636-6 This test evaluates the NR3C2 gene for pathogenic variants associated with autosomal dominant pseudohypoaldosteronism type 1 (PHA1). It identifies seq... Whole blood (EDTA), extracted DNA (≥1 µg), or FTA card 3–4 weeks 2,800.00 AED Details
NRAS Gene Noonan Syndrome Type 6 Genetic Test TEST-2504 LOINC 79509-3 This genetic test analyzes the NRAS gene to identify mutations associated with Noonan syndrome type 6. Peripheral whole blood (3–5 mL EDTA) 3–4 Weeks 2,800.00 AED Details
NRG1 Gene Hirschsprung Disease Genetic Test TEST-2769 LOINC 96603-3 This test evaluates the NRG1 gene for pathogenic variants associated with Hirschsprung disease. Whole Blood (EDTA / FTA Card) or Extracted DNA 3–4 Weeks 2,800.00 AED Details
NRTN Gene Hirschsprung Disease Genetic Test TEST-2759 LOINC 94215-7 This test evaluates the NRTN gene for mutations associated with Hirschsprung disease. Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 21 to 28 business days (3–4 weeks) 2,800.00 AED Details
NSDHL Gene CK Syndrome Genetic Test TEST-3995 LOINC 81264-3 This genetic test evaluates the NSDHL gene for mutations associated with Cockayne Syndrome (CK syndrome). It identifies specific genetic variants that... Peripheral Whole Blood 3 to 4 Weeks 2,800.00 AED Details
NT5C2 Gene SPG45 Genetic Test TEST-5766 LOINC 21653-2 This test sequences the entire NT5C2 gene to detect pathogenic variants associated with Hereditary Spastic Paraplegia type 45 (SPG45). It identifies s... Whole Blood (2–5 mL), Saliva, or FTA Card Blood Spot 3–4 Weeks 2,800.00 AED Details
OAT Gene Gyrate Atrophy of Choroid and Retina Genetic Test TEST-3655 LOINC 101281-1 This genetic test identifies pathogenic variants in the OAT gene, confirming a diagnosis of gyrate atrophy of the choroid and retina. Whole Blood (EDTA), Extracted DNA, or FTA Card 3-4 Weeks 2,800.00 AED Details
OCLN Gene (Band‑like Calcification with Simplified Gyration and Polymicrogyria) Genetic Test TEST-3056 LOINC 94473-2 This test identifies pathogenic variants in the OCLN gene associated with band-like calcification with simplified gyration and polymicrogyria (BLC-PMG... Whole Blood (EDTA), Extracted DNA, or FTA Card 3–4 weeks from sample receipt 2,800.00 AED Details
OCRL Gene Dent Disease Type 2 Genetic Test TEST-4152 LOINC 60777-8 This test evaluates the OCRL gene for pathogenic variants associated with X-linked Dent disease type 2. Whole Blood, Extracted DNA, or FTA Card Blood Spot 3 – 4 Weeks 2,800.00 AED Details
OCRL Gene Sequencing Test for Lowe Oculocerebrorenal Syndrome TEST-4846 LOINC 55217-9 This test evaluates the entire OCRL gene for pathogenic variants associated with Lowe oculocerebrorenal syndrome. Whole Blood (Peripheral) 3–4 Weeks 2,800.00 AED Details
OPA3 Gene (3-Methylglutaconic Aciduria Type III) Genetic Test TEST-6028 LOINC 94222-1 This genetic test analyzes the OPA3 gene to identify mutations causing 3-Methylglutaconic Aciduria Type III (Costeff syndrome). It provides a definiti... Whole blood, extracted DNA, or FTA card 3 to 4 Weeks 2,800.00 AED Details
ORC4 Gene Meier-Gorlin Syndrome Type 2 Genetic Test TEST-2604 LOINC 82007-5 This test identifies pathogenic variants in the ORC4 gene, which are associated with Meier-Gorlin syndrome type 2, a rare form of primordial dwarfism. Whole Blood, Extracted DNA, or One-Drop Blood on FTA Card 3–4 Weeks 2,800.00 AED Details
OSTM1 Gene Osteopetrosis, Autosomal Recessive Type 5 Genetic Test TEST-4691 LOINC 93733-7 This diagnostic test evaluates the OSTM1 gene for pathogenic variants associated with autosomal recessive osteopetrosis type 5. Peripheral Whole Blood or FTA Card Blood Spot 3–4 weeks 2,800.00 AED Details
OXCT1 Gene (Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency) Genetic Test TEST-5813 LOINC 79474-8 This genetic test identifies pathogenic variants in the OXCT1 gene associated with Succinyl-CoA:3-Oxoacid CoA Transferase (SCOT) deficiency. Whole blood, extracted DNA, or FTA card blood spot 3–4 Weeks 2,800.00 AED Details
P2RY12 Gene Platelet‑Type 8 Bleeding Disorder DNA Test TEST-3312 LOINC 92940-1 This test evaluates the P2RY12 gene for pathogenic variants associated with platelet-type 8 bleeding disorder. Whole Blood, Extracted DNA, or FTA Card Blood Spot 14–21 Business Days 2,800.00 AED Details
PAH Gene Phenylketonuria (PKU) Genetic Test TEST-5890 LOINC 21636-6 This test evaluates the PAH gene for pathogenic variants associated with phenylketonuria (PKU) and hyperphenylalaninemia. Whole blood, extracted DNA, or FTA card 3 to 4 weeks 2,800.00 AED Details
PARN Gene Pulmonary Fibrosis and Bone Marrow Failure, Telomere-Related Type 4 Genetic Test TEST-4601 LOINC 21670-8 This test identifies pathogenic variants in the PARN gene associated with telomere-related pulmonary fibrosis and bone marrow failure. Peripheral Whole Blood, DNA extraction card, or extracted DNA 3–4 Weeks 2,800.00 AED Details
PAX6 Gene Coloboma of the Optic Nerve Genetic Test TEST-3572 LOINC 94495-7 This test evaluates the PAX6 gene for pathogenic variants associated with congenital optic nerve coloboma using next-generation sequencing. Peripheral Whole Blood (EDTA), Saliva (FTA Card), or Extracted Genomic DNA 3–4 weeks 2,800.00 AED Details
PAX6 Gene Foveal Hypoplasia Type 1 Genetic Test TEST-3631 LOINC 93296-9 This genetic test identifies mutations within the PAX6 gene associated with congenital foveal hypoplasia and aniridia. Whole Blood or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
PCBD1 Gene Hyperphenylalaninemia, BH4-Deficient, Type D Genetic Test TEST-6150 LOINC 48018-6 This test analyzes the PCBD1 gene for pathogenic variants causing BH4-deficient hyperphenylalaninemia type D. Whole blood, extracted DNA, or dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
PCDH19 Gene Early Infantile Epileptic Encephalopathy Type 9 Genetic Test TEST-4294 LOINC 81307-0 This genetic test evaluates the PCDH19 gene for mutations associated with Early Infantile Epileptic Encephalopathy Type 9 (EIEE9). Peripheral Blood (Whole Blood) 3–4 Weeks 2,800.00 AED Details
PCSK9 Gene Hypercholesterolemia Autosomal Dominant Type 3 Genetic Test TEST-6262 LOINC 55233-1 This genetic test identifies pathogenic variants in the PCSK9 gene associated with autosomal dominant hypercholesterolemia type 3. Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot 3–4 Weeks 2,800.00 AED Details
PDE8B Gene Striatal Degeneration Genetic Test TEST-5819 LOINC 58795-0 This genetic test identifies pathogenic variants in the PDE8B gene associated with autosomal recessive striatal degeneration. Whole blood (EDTA), extracted DNA, or FTA card spot 3–4 weeks 2,800.00 AED Details
PDGFB Gene Sequencing Test TEST-3067 LOINC 21665-7 This test identifies pathogenic variants in the PDGFB gene associated with Idiopathic Basal Ganglia Calcification Type 5 (IBGC5). Peripheral Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Extracted DNA 3–4 Weeks 2,800.00 AED Details
PDHA1 (PDX1) and PDHX Gene Lacticacidemia Genetic Test TEST-6134 LOINC 81344-4 This test evaluates the PDHA1 (PDX1) and PDHX genes for pathogenic variants associated with pyruvate dehydrogenase complex deficiency, a cause of prim... Peripheral EDTA whole blood (3–5 mL) or extracted genomic DNA (≥1 µg) 3–4 weeks 2,800.00 AED Details
PDHA1 Gene Pyruvate Dehydrogenase E1-Alpha Deficiency Genetic Test TEST-5912 LOINC 83107-8 This test identifies pathogenic variants in the PDHA1 gene, confirming a diagnosis of pyruvate dehydrogenase E1-alpha deficiency. Whole blood, extracted DNA, or FTA card 3–4 Weeks 2,800.00 AED Details
PEX1 Gene Zellweger Syndrome Genetic Test TEST-5966 LOINC 93277-8 This test analyzes the PEX1 gene for pathogenic variants associated with Zellweger spectrum disorders using Next-Generation Sequencing (NGS). It provi... Whole Blood (preferred), Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
PEX11B Gene Peroxisome Biogenesis Disorder 14B Genetic Test TEST-5463 LOINC 21636-6 This genetic test evaluates the PEX11B gene for pathogenic variants associated with peroxisome biogenesis disorder 14B. Peripheral whole blood 3–4 weeks (fast-track available) 2,800.00 AED Details
PEX2 Gene Zellweger Syndrome Genetic Test TEST-5886 LOINC 23862-2 This genetic test identifies pathogenic variants in the PEX2 gene associated with Zellweger syndrome spectrum disorders. Peripheral Whole Blood (EDTA) or High-Quality Extracted DNA 3 – 4 Weeks (21 – 28 Days) 2,800.00 AED Details
PEX3 Gene Peroxisome Biogenesis Disorder Type 10A Genetic Test TEST-5551 LOINC 102006-9 This genetic test analyzes the PEX3 gene to identify pathogenic variants associated with peroxisome biogenesis disorder type 10A (Zellweger spectrum).... Peripheral Whole Blood (EDTA) or DNA FTA Card 21–28 Business Days 2,800.00 AED Details
PEX5 Gene Peroxisome Biogenesis Disorder Type 2A Genetic Test TEST-5555 LOINC 21685-0 This genetic test identifies pathogenic variants in the PEX5 gene associated with peroxisome biogenesis disorder type 2A. Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot 3 to 4 Weeks 2,800.00 AED Details
PEX5 Gene Peroxisome Biogenesis Disorder Type 2B Genetic Test TEST-5471 LOINC 87809-3 This genetic test identifies pathogenic variants in the PEX5 gene associated with peroxisome biogenesis disorder type 2B. Peripheral Whole Blood (3–5 mL in EDTA tube) or Validated DNA Blood Kit 3–4 Weeks 2,800.00 AED Details
PEX6 Gene Zellweger Syndrome Genetic Test TEST-5889 LOINC 69548-6 This genetic test sequences the PEX6 gene to identify pathogenic variants associated with Zellweger spectrum disorders. Peripheral Whole Blood or FTA Card (Dried Blood Spot) 3–4 Weeks 2,800.00 AED Details
PHOX2A Gene Central Hypoventilation Syndrome Genetic Test TEST-2994 LOINC 21636-6 This test identifies pathogenic variants in the PHOX2A gene, which are the primary cause of Congenital Central Hypoventilation Syndrome (CCHS). Peripheral whole blood 3–4 weeks 2,800.00 AED Details
PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease Genetic Test TEST-4229 LOINC 92746-2 This test evaluates the PHOX2B gene for pathogenic variants associated with Congenital Central Hypoventilation Syndrome (CCHS) and Hirschsprung diseas... Whole Blood (EDTA) or FTA Card 3 to 4 Weeks 2,800.00 AED Details
PHOX2B Gene Sequencing Test TEST-3946 LOINC 59099-9 This test identifies mutations in the PHOX2B gene, the primary cause of Congenital Central Hypoventilation Syndrome (CCHS). It detects both common and... Whole Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card 3 to 4 Weeks 2,800.00 AED Details
PICALM Gene Genetic Test for Immunological & Dermatologic Disorders TEST-4868 LOINC 21636-6 This test analyzes the PICALM gene for pathogenic variants linked to immunological, dermatologic, and oncological disorders. Peripheral whole blood 3–4 weeks from sample receipt 2,800.00 AED Details
PIEZO2 Gene Distal Arthrogryposis Type 3 (DA3) Genetic Test TEST-5408 LOINC 81313-4 This test identifies pathogenic variants within the PIEZO2 gene associated with Distal Arthrogryposis Type 3 (Gordon Syndrome). It utilizes full-gene... Peripheral Whole Blood (EDTA) or FTA Card Dried Blood Spot 3–4 weeks from sample receipt 2,800.00 AED Details
PIEZO2 Gene Marden-Walker Syndrome Genetic Test TEST-2614 LOINC 94268-2 This test identifies pathogenic variants in the PIEZO2 gene associated with Marden-Walker syndrome. Peripheral Whole Blood or FTA Card 21 to 28 days 2,800.00 AED Details
PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 (HPMRS5) Genetic Test TEST-2719 LOINC 81263-4 This genetic test identifies pathogenic mutations in the PIGW gene associated with Hyperphosphatasia with Mental Retardation Syndrome Type 5 (HPMRS5).... Peripheral Whole Blood, Extracted DNA, or FTA Card Sample 3–4 Weeks 2,800.00 AED Details
PIK3CA Gene Analysis by Next‑Generation Sequencing (NGS) Test TEST-1231 LOINC 21626-4 This test evaluates the PIK3CA gene for somatic mutations using Next-Generation Sequencing (NGS). It identifies variants associated with solid tumours... Peripheral Whole Blood (10 mL) 10–15 Working Days 4,000.00 AED Details
PIK3R5 Gene Ataxia‑Oculomotor Apraxia Type 3 Genetic Test TEST-3864 LOINC 81247-9 This test identifies pathogenic variants in the PIK3R5 gene, confirming a diagnosis of Ataxia-Oculomotor Apraxia Type 3 (AOA3). Peripheral Blood (EDTA), Extracted DNA, or FTA Card 3–4 Weeks (21–28 Business Days) 2,800.00 AED Details
PITX2 Gene Axenfeld‑Rieger Syndrome Type 1 Genetic Test TEST-3089 LOINC 55131-5 This genetic test analyzes the PITX2 gene to identify mutations associated with Axenfeld‑Rieger syndrome type 1. Peripheral whole blood (3–5 mL in EDTA) 21–28 calendar days 2,800.00 AED Details
PITX3 Gene Anterior Segment Mesenchymal Dysgenesis Genetic Test TEST-3081 LOINC 21617-1 This test evaluates the PITX3 gene for pathogenic variants associated with anterior segment eye development disorders. Peripheral whole blood (2-3 mL in EDTA) 3 to 4 weeks 2,800.00 AED Details
PJVK Gene (DFNB59) Sequencing Test TEST-5670 LOINC 48766-5 This test evaluates the PJVK gene for pathogenic variants associated with autosomal recessive non-syndromic sensorineural hearing loss (DFNB59). Peripheral Whole Blood (3–5 mL EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3 to 4 Weeks 2,800.00 AED Details
PKHD1 Gene (Polycystic Kidney Disease Type 1, Autosomal Recessive) Genetic Test TEST-3541 LOINC 92547-4 This test identifies pathogenic variants in the PKHD1 gene, confirming a diagnosis of Autosomal Recessive Polycystic Kidney Disease (ARPKD). Peripheral whole blood (3–5 mL EDTA) or FTA card DNA specimen 3–4 Weeks from sample receipt 2,800.00 AED Details
PKHD1L1 Gene Autism, PKHD1L1-related Genetic Test TEST-3934 LOINC 94230-0 This test identifies genetic variants in the PKHD1L1 gene associated with autism spectrum disorders. Whole blood (5 ml EDTA tube), FTA card dried blood spot, or extracted DNA 3–4 Weeks 2,800.00 AED Details
PKLR Gene Adenosine Triphosphate, Elevated Erythrocytes Genetic Test TEST-3359 LOINC 60230-6 This genetic test analyzes the PKLR gene to identify mutations associated with pyruvate kinase deficiency, a cause of chronic hemolytic anemia. Peripheral Whole Blood (EDTA tube) 3–4 Weeks 2,800.00 AED Details
PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia Genetic Test TEST-5837 LOINC 21636-6 This test identifies pathogenic variants in the PKLR gene associated with pyruvate kinase deficiency, a cause of hereditary non-spherocytic hemolytic... Peripheral Whole Blood (3–5 mL in EDTA), Extracted DNA, or FTA Card Dried Blood Spot 21–28 Calendar Days 2,800.00 AED Details
PKP2 Gene (Arrhythmogenic Right Ventricular Cardiomyopathy Type 9) Genetic Test TEST-4431 LOINC 38177-0 This genetic test identifies pathogenic variants in the PKP2 gene associated with Arrhythmogenic Right Ventricular Cardiomyopathy Type 9 (ARVC9). Whole blood (peripheral) 3–4 weeks (expedited available) 2,800.00 AED Details
PLA2G5 Gene Familial Benign Fleck Retina Genetic Test TEST-3653 LOINC 82326-5 This test evaluates the PLA2G5 gene for pathogenic variants associated with familial benign fleck retina. Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot 3–4 Weeks 2,800.00 AED Details
PLEC Gene Epidermolysis Bullosa Simplex (Ogna Type) NGS Genetic Analysis Test TEST-5120 LOINC 83039-0 This test identifies pathogenic variants in the PLEC gene associated with Ogna-type epidermolysis bullosa simplex. Blood, Extracted DNA, FTA Card 3–4 Weeks 2,800.00 AED Details
PMP22 Gene (HNPP) Next‑Generation Sequencing (NGS) Genetic Test TEST-5466 LOINC 81329-1 This test identifies pathogenic variants within the PMP22 gene associated with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). It ana... Whole Blood (2–3 mL in DNA preservation tube) 3–4 weeks 2,800.00 AED Details
PNKD Gene (Paroxysmal Nonkinesigenic Dyskinesia) Genetic Test TEST-5448 LOINC 94222-8 This genetic test identifies pathogenic variants within the PNKD gene associated with paroxysmal nonkinesigenic dyskinesia. Peripheral Whole Blood (3–5 mL in EDTA tube) or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
PNPLA1 Gene Sequencing for Autosomal Recessive Congenital Ichthyosis (ARCI) Test TEST-4970 LOINC 81263-5 This test evaluates the PNPLA1 gene for variants associated with Autosomal Recessive Congenital Ichthyosis (ARCI). It identifies mutations within the... Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card 3–4 weeks 2,800.00 AED Details
POLD1 Gene Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy (MDPL) Syndrome Genetic Test TEST-2628 LOINC 82307-3 This test analyzes the POLD1 gene to identify pathogenic variants associated with Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrop... Whole Blood (EDTA), Extracted DNA, or Buccal Swab 3 to 4 Weeks 2,800.00 AED Details
POLG Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 1, Autosomal Dominant (Genetic Test) TEST-5615 LOINC 82989-5 This genetic test detects pathogenic variants in the POLG gene associated with autosomal dominant progressive external ophthalmoplegia with mitochondr... Peripheral Whole Blood, DNA FTA Card, or Extracted DNA 21 – 28 Business Days (3 – 4 Weeks) 2,800.00 AED Details
POLR3B Gene Leukodystrophy Hypomyelinating Type 8 Genetic Test TEST-4685 LOINC 21643-2 This genetic test identifies pathogenic variants in the POLR3B gene associated with hypomyelinating leukodystrophy type 8. Whole Blood (EDTA), Extracted DNA (≥1 µg), or FTA Card Dried Blood Spot 3–4 Weeks 2,800.00 AED Details
POMT2 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A2, Genetic Test TEST-5267 LOINC 83580-5 This genetic test identifies mutations in the POMT2 gene associated with congenital muscular dystrophy-dystroglycanopathy type A2 (MDDGA2). Whole Blood or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
POR Gene (Cytochrome P450 Oxidoreductase Deficiency) Adrenal Hyperplasia Genetic Test TEST-5970 LOINC 101404-8 This genetic test evaluates the POR gene for pathogenic variants associated with cytochrome P450 oxidoreductase deficiency, a form of congenital adren... Whole Blood, Extracted DNA, or FTA Card 3 to 4 Weeks 2,800.00 AED Details
PORCN Gene Focal Dermal Hypoplasia Genetic Test TEST-5097 LOINC 96507-0 This test evaluates the PORCN gene for mutations associated with Focal Dermal Hypoplasia (Goltz syndrome). Peripheral Whole Blood 3–4 weeks 2,800.00 AED Details
PPARG Gene Lipodystrophy, Familial Partial, Type 3 Genetic Test TEST-6113 LOINC 81315-3 This test identifies pathogenic variants in the PPARG gene associated with Familial Partial Lipodystrophy Type 3 (FPLD3). Whole Blood (EDTA) or DNA FTA Card 3 to 4 Weeks 2,800.00 AED Details
PPM1K Gene (Maple Syrup Urine Disease, Mild Variant) Genetic Test TEST-6088 LOINC 21600-5 This test evaluates the PPM1K gene for mutations associated with the mild variant of Maple Syrup Urine Disease (MSUD). It identifies specific genetic... Peripheral Whole Blood or FTA Card 3–4 weeks 2,800.00 AED Details
PRICKLE2 Gene Progressive Myoclonic Epilepsy Type 5 Genetic Test TEST-4374 LOINC 62115-2 This genetic test analyzes the PRICKLE2 gene for pathogenic variants associated with progressive myoclonic epilepsy type 5 (EPM5). It uses Next Genera... Whole blood (EDTA tube), extracted DNA, or FTA card (peripheral blood specimen) 3–4 Weeks 2,800.00 AED Details
PRKAR1A Gene Sequencing for Primary Pigmented Nodular Adrenocortical Disease Type 1 (Carney Complex) Test TEST-3594 LOINC 90261-5 This test identifies genetic variants in the PRKAR1A gene associated with Carney complex and primary pigmented nodular adrenocortical disease type 1 (... Peripheral whole blood (2 × 6 mL EDTA tubes) or FTA card capillary blood spot 3–4 weeks 2,800.00 AED Details
PRKRA Gene DYT16 Genetic Test TEST-4197 LOINC 52042-9 This test identifies pathogenic variants in the PRKRA gene associated with DYT16 dystonia-parkinsonism. Peripheral whole blood, FTA card, or extracted DNA 14–21 Business Days 2,800.00 AED Details
PRNP Gene Creutzfeldt-Jakob Disease Genetic Test TEST-4161 LOINC 81247-9 This genetic test analyzes the PRNP gene for mutations linked to Creutzfeldt-Jakob disease, aiding in diagnosis and risk assessment. Whole Blood, Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
PRNP Gene Fatal Familial Insomnia Genetic Test TEST-4483 LOINC 23504-4 This diagnostic test evaluates the PRNP gene for mutations associated with Fatal Familial Insomnia (FFI), a rare, inherited prion disease. Whole Blood, Extracted DNA, or Dried Blood Spot on FTA Card 3–4 Weeks 2,800.00 AED Details
PROKR2 Gene Hypogonadotropic Hypogonadism Type 3 (with or without Anosmia) Genetic Test TEST-3758 LOINC 94716-0 This test evaluates the PROKR2 gene for pathogenic variants associated with hypogonadotropic hypogonadism type 3. Whole Blood or Dried Blood Spot 3–4 Weeks 2,800.00 AED Details
PROP1 Gene Pituitary Hormone Deficiency Type 2 Genetic Test TEST-2424 LOINC 103431-8 This genetic test identifies mutations in the PROP1 gene associated with combined pituitary hormone deficiency type 2. Peripheral whole blood (EDTA tube) 3–4 weeks 2,800.00 AED Details
PRPH2 Gene Choroidal Dystrophy, Central Areolar Type 2 (CACD2) Genetic Test TEST-3568 LOINC 84842-8 This test evaluates the PRPH2 gene for mutations associated with Central Areolar Choroidal Dystrophy Type 2 (CACD2). Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
PRPH2 Gene Sequencing (Fundus Albipunctatus) Genetic Test TEST-3657 LOINC 52084-6 This test identifies pathogenic variants in the PRPH2 gene, confirming a diagnosis of fundus albipunctatus. Peripheral Whole Blood, FTA Card Spot, or Extracted DNA 21 – 28 Days 2,800.00 AED Details
PRSS1 Gene Hereditary Pancreatitis Genetic Test TEST-3567 LOINC 92263-1 This genetic test identifies pathogenic variants in the PRSS1 gene associated with hereditary pancreatitis. Whole Blood, FTA Card or Extracted DNA 18–25 Working Days 2,800.00 AED Details
PRSS2 Gene Susceptibility Test for Chronic Pancreatitis TEST-3601 LOINC 82298-6 This test evaluates the PRSS2 gene for protective mutations associated with a reduced risk of chronic pancreatitis. Whole Blood (Venous) or FTA Card (Dried Blood Spots) 16–20 Business Days 2,800.00 AED Details
PRX Gene Dejerine-Sottas Disease Genetic Test TEST-4136 LOINC 48263-9 This test evaluates the PRX gene for pathogenic variants associated with Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Whole Blood (Peripheral) 3–4 Weeks 2,800.00 AED Details
PSAP Gene (Prosaposin Deficiency) Genetic Test TEST-5857 LOINC 21667-9 This genetic test evaluates the PSAP gene for mutations causing Prosaposin deficiency, a lysosomal storage disorder. Whole blood, extracted DNA, or one drop blood on FTA card 3–4 weeks 2,800.00 AED Details
PSAP Gene Sequencing for Atypical Krabbe Disease (NGS) Test TEST-6142 LOINC 94886-8 This test identifies pathogenic mutations in the PSAP gene associated with atypical Krabbe disease (saposin C deficiency). It is used when standard en... Whole Blood (EDTA, 5–10 mL) or Oragene DNA Saliva Kit 3–4 Weeks 2,800.00 AED Details
PSEN1 Gene Acne Inversa (Familial Type 3) Genetic Test TEST-5447 LOINC 91811-1 This genetic test evaluates the PSEN1 gene for pathogenic variants associated with familial acne inversa (hidradenitis suppurativa) type 3. Peripheral whole blood (EDTA tube) or FTA card finger-prick 3–4 weeks 2,800.00 AED Details
PSEN1 Gene Dilated Cardiomyopathy Type 1U (CMD1U) Genetic Test TEST-4327 LOINC 92830-2 This test identifies pathogenic mutations in the PSEN1 gene associated with dilated cardiomyopathy type 1U. Peripheral whole blood (3–5 mL EDTA tube) 3–4 Weeks 2,800.00 AED Details
PTCH2 Gene (Gorlin Syndrome) Germline Mutation Genetic Test TEST-2161 LOINC 21636-6 This genetic test evaluates the PTCH2 gene for germline mutations associated with Gorlin syndrome (Basal Cell Nevus Syndrome). Peripheral whole blood (EDTA tube, 3–5 mL) 3 – 4 weeks 2,800.00 AED Details
PTCHD1 Gene Genetic Test TEST-3902 LOINC 96617-3 This test detects pathogenic variants, including single nucleotide variants and copy number variations, within the PTCHD1 gene. Peripheral Whole Blood (EDTA) or Buccal Swab 3 to 4 Weeks 2,800.00 AED Details
PTEN Gene Cowden Syndrome Type 1 Genetic Test TEST-2086 LOINC 33987-2 This test identifies germline mutations in the PTEN gene associated with an increased risk of developing Cowden syndrome and related cancers. Peripheral whole blood or FTA card (dried blood spot) 3 to 4 weeks 2,800.00 AED Details
PTH1R Gene Chondrodysplasia, Blomstrand Type Genetic Test TEST-2974 LOINC 47619-6 This test evaluates the PTH1R gene for pathogenic variants associated with Blomstrand chondrodysplasia. Peripheral blood (EDTA tube) or extracted genomic DNA 3–4 weeks 2,800.00 AED Details
PXDN Gene Corneal Opacification and Other Ocular Anomalies Genetic Test TEST-3600 LOINC 94221-7 This genetic test analyzes the PXDN gene to detect pathogenic variants causing congenital corneal opacification and associated ocular anomalies. Whole blood, extracted DNA, cheek swab (buccal mucosa), dried blood spots on FTA cards, ocular fluid 3–4 weeks 2,800.00 AED Details
PYGL Gene Glycogen Storage Disease Type VI (Hers Disease) Genetic Test TEST-6334 LOINC 91818-9 This test identifies pathogenic variants in the PYGL gene, confirming a diagnosis of Glycogen Storage Disease Type VI (Hers disease). Whole blood (3–5 mL), extracted DNA, or FTA card blood spot 3–4 weeks 2,800.00 AED Details
RAB27A Gene Griscelli Syndrome Type 2 Genetic Test TEST-4561 LOINC 92822-5 This test evaluates the entire coding region of the RAB27A gene for pathogenic variants associated with Griscelli syndrome type 2. Whole Blood (EDTA) or Buccal Swab (DNA FTA Card) 3 to 4 Weeks 2,800.00 AED Details
RAD51 Gene Mirror Movements Type 2 Genetic Test TEST-5107 LOINC 81252-9 This test evaluates the RAD51 gene for pathogenic variants associated with congenital mirror movements type 2 (CMM2) using next-generation sequencing. Whole blood, DNA, dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
RAG1 Gene (Severe Combined Immunodeficiency, B‑cell Negative) Genetic Test TEST-4579 LOINC 81263-8 This genetic test identifies pathogenic variants in the RAG1 gene associated with B-cell negative Severe Combined Immunodeficiency (SCID). It detects... Whole Blood (EDTA), Extracted DNA (≥2 µg), or FTA Card 3–4 weeks 2,800.00 AED Details
RAG2 Gene Combined Cellular and Humoral Immune Defects with Granulomas Genetic Test TEST-5311 LOINC 48707-5 This test uses Next-Generation Sequencing to analyze the entire coding region of the RAG2 gene for pathogenic variants linked to combined immunodefici... Whole Blood (EDTA tube), Extracted DNA (min 1 µg), or One Drop of Blood on FTA Card 3 to 4 Weeks 2,800.00 AED Details
RAPSN Gene Fetal Akinesia Deformation Sequence Genetic Test (NGS) TEST-2845 LOINC 82919-7 This test evaluates the RAPSN gene for pathogenic variants associated with fetal akinesia deformation sequence and congenital myasthenic syndrome. Venous whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) 3–4 Weeks 2,800.00 AED Details
RASA1 Gene Genetic Test for Capillary Malformation-Arteriovenous Malformation TEST-4026 LOINC 50398-7 This test evaluates the RASA1 gene for pathogenic variants associated with Capillary Malformation-Arteriovenous Malformation (CM-AVM) syndrome. Whole blood (EDTA tube), extracted DNA, or FTA card blood spot 3 – 4 Weeks 2,800.00 AED Details
RBPJ Gene Adams-Oliver Syndrome Type 3 Genetic Test TEST-5482 LOINC 81306-6 This test identifies pathogenic variants in the RBPJ gene associated with Adams-Oliver syndrome type 3. Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 weeks 2,800.00 AED Details
RDH5 Gene Fundus Albipunctatus Genetic Test TEST-3635 LOINC 82455-4 This genetic test identifies mutations in the RDH5 gene associated with Fundus Albipunctatus, an inherited retinal dystrophy. Whole Blood, Extracted DNA, or FTA Card 3 to 4 Weeks 2,800.00 AED Details
RET Gene Hirschsprung Disease Genetic Test TEST-2765 LOINC 21687-8 This test evaluates the RET proto-oncogene for pathogenic variants associated with Hirschsprung disease and Multiple Endocrine Neoplasia type 2. Whole blood (EDTA or FTA card) 3–4 Weeks 2,800.00 AED Details
Retinal Degeneration Gene Panel Test TEST-1168 LOINC 94395-2 This test evaluates over 250 genes associated with inherited retinal dystrophies using Next-Generation Sequencing (NGS). It identifies genetic mutatio... Peripheral whole blood 4–6 weeks 4,800.00 AED Details
RGS9BP Gene Bradyopsia Genetic Test TEST-3497 LOINC 94900-7 This test detects pathogenic variants in the RGS9BP gene associated with bradyopsia, a rare cone dysfunction syndrome. Whole Blood (EDTA), Extracted DNA, or FTA Card (dried blood spot) 3–4 weeks 2,800.00 AED Details
RIN2 Gene Macrocephaly, Alopecia, Cutis Laxa, & Scoliosis Genetic Test TEST-2623 LOINC 95278-0 This genetic test evaluates the entire coding region of the RIN2 gene for pathogenic variants associated with MACS syndrome. Whole Blood (EDTA) or DNA FTA Card 3 to 4 weeks 2,800.00 AED Details
RIPK4 Gene (Popliteal Pterygium Syndrome, Lethal Type) Genetic Test TEST-2423 LOINC 48767-8 This test identifies pathogenic variants in the RIPK4 gene associated with lethal popliteal pterygium syndrome. Whole Blood (EDTA), FTA Card, or Buccal Swab (Extracted DNA accepted) 3–4 Weeks 2,800.00 AED Details
RNF128 Gene Autism Genetic Test TEST-3908 LOINC 82939-0 This test sequences the RNF128 gene to detect pathogenic variants associated with Autism Spectrum Disorder (ASD). It uses Next-Generation Sequencing (... Peripheral whole blood (EDTA tube) or dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
RNF213 Gene Susceptibility for Moyamoya Disease Type 2 (Genetic Testing) Test TEST-4028 LOINC 74832-3 This genetic test evaluates the RNF213 gene for pathogenic variants associated with Moyamoya disease type 2. Whole Blood (EDTA) or FTA Card Blood Spot 3–4 Weeks 2,800.00 AED Details
ROBO3 Gene Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) Genetic Test TEST-4504 LOINC 96993-9 This genetic test identifies pathogenic variants in the ROBO3 gene associated with Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS). Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
RPGRIP1L Gene COACH Syndrome Genetic Test TEST-4073 LOINC 81403-8 This test provides definitive molecular confirmation of COACH syndrome by identifying pathogenic variants in the RPGRIP1L gene. Whole blood or dried blood spot (peripheral) 3 to 4 weeks 2,800.00 AED Details
RPL15 Gene Diamond-Blackfan Anemia Type 12 Genetic Test TEST-3290 LOINC 48000-4 This test identifies pathogenic variants in the RPL15 gene associated with Diamond-Blackfan anemia type 12. Whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) 3–4 Weeks (Express available) 2,800.00 AED Details
RPS26 Gene Diamond-Blackfan Anemia Type 10 Genetic Test (NGS) TEST-3297 LOINC 55233-1 This test analyzes the RPS26 gene for mutations associated with Diamond-Blackfan Anemia Type 10. Peripheral blood (whole blood) 3–4 Weeks 2,800.00 AED Details
RSPH4A Gene Primary Ciliary Dyskinesia Type 11 Genetic Test TEST-5585 LOINC 81269-5 This genetic test identifies mutations in the RSPH4A gene associated with primary ciliary dyskinesia type 11. Blood (EDTA), Extracted DNA, Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
RYR1 Gene Sequencing for King-Denborough Syndrome Test TEST-4614 LOINC 82283-4 This test evaluates the RYR1 gene for pathogenic variants associated with King-Denborough syndrome and malignant hyperthermia susceptibility. Peripheral whole blood (preferred) or buccal swab 3–4 weeks 2,800.00 AED Details
SALL4 Gene Analysis for Duane Retraction Syndrome (Genetic Test) TEST-3628 LOINC 21705-3 This test identifies pathogenic variants in the SALL4 gene associated with Duane retraction syndrome and related disorders. Peripheral Whole Blood (EDTA tube) or Dried Blood Spot (FTA card) 3–4 Weeks 2,800.00 AED Details
SAMD9 Gene Mirage Syndrome Genetic Test TEST-3634 LOINC 93390-1 This test analyzes the SAMD9 gene for pathogenic variants associated with Mirage syndrome using Next-Generation Sequencing. Peripheral Blood (FTA card or venous draw) 3–4 Weeks 2,800.00 AED Details
SAMHD1 Gene Aicardi-Goutières Syndrome Type 5 Genetic Test TEST-3747 LOINC 92841-1 This genetic test detects pathogenic variants in the SAMHD1 gene to diagnose Aicardi-Goutières syndrome type 5. Peripheral whole blood (3–5 mL in EDTA tube) 3–4 Weeks 2,800.00 AED Details
SBDS Gene-Related Aplastic Anemia Genetic Test TEST-6000 LOINC 21636-6 This test evaluates the SBDS gene for pathogenic variants associated with Shwachman-Diamond syndrome and constitutional aplastic anemia. Peripheral blood, extracted DNA, or FTA card (dried blood spot) 3–4 weeks 2,800.00 AED Details
SCN1A Gene Sequencing for GEFS+ Type 2 Test TEST-4437 LOINC 48306-0 This test identifies pathogenic variants in the SCN1A gene associated with Generalized Epilepsy with Febrile Seizures Plus (GEFS+) Type 2. Peripheral Whole Blood (EDTA) or FTA Card 3–4 Weeks 2,800.00 AED Details
SCN4A Gene NGS Test for Paramyotonia Congenita (von Eulenburg) TEST-5405 LOINC 81314-2 This test sequences the entire SCN4A gene to detect mutations associated with paramyotonia congenita. EDTA whole blood, extracted DNA, or FTA card 3–4 weeks 2,800.00 AED Details
SCN5A Gene (Ventricular Fibrillation, Familial Paroxysmal Type 1) Genetic Test TEST-4089 LOINC 21636-6 This test analyzes the SCN5A gene for variants associated with inherited cardiac arrhythmias and sudden cardiac death risk. Whole Blood (EDTA) or DNA (FTA Card) 3–4 Weeks 2,800.00 AED Details
SCN9A Gene Primary Erythromelalgia Genetic Test TEST-4464 LOINC 94026-8 This test evaluates the SCN9A gene for mutations associated with primary erythromelalgia. Whole blood, extracted DNA, or FTA card 3 – 4 weeks 2,800.00 AED Details
SCN9A Gene Sequencing (NGS) for Dravet Syndrome Modifier Variants Test TEST-4169 LOINC 94762-2 This test identifies genetic variants in the SCN9A gene that may modify the clinical presentation and treatment response in individuals with Dravet sy... Whole Blood (EDTA), extracted DNA, or dried blood spot (FTA card) 3–4 weeks (expedited available) 2,800.00 AED Details
SCNN1A Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test TEST-3521 LOINC 83275-3 This test identifies mutations in the SCNN1A gene associated with autosomal recessive pseudohypoaldosteronism type 1 (PHA1). It analyzes the entire ge... Whole blood (EDTA tube) or dried blood spot (FTA card) 21–28 working days 2,800.00 AED Details
SCNN1B Gene Liddle Syndrome Genetic Test TEST-3667 LOINC 82069-3 This test identifies pathogenic variants in the SCNN1B gene associated with Liddle syndrome, a cause of early-onset severe hypertension. Whole Blood (Peripheral Venipuncture) 3–4 Weeks 2,800.00 AED Details
SCO1 Gene Mutation Analysis (Hepatic Failure & Early‑Onset Neurologic Disorder) Test TEST-3760 LOINC 21660-3 This test identifies pathogenic variants in the SCO1 gene associated with early-onset hepatic failure and progressive neurologic disorder. Whole Blood (EDTA) or Dried Blood Spot (FTA card) 3–4 Weeks 2,800.00 AED Details
SDCCAG8 Gene Senior‑Loken Syndrome Type 7 Genetic Test TEST-3479 LOINC 82939-0 This genetic test evaluates the SDCCAG8 gene for pathogenic variants associated with Senior‑Loken syndrome type 7. Whole blood (EDTA tube), extracted DNA, or FTA card 3–4 weeks (preliminary verbal result available) 2,800.00 AED Details
SDHA Gene Dilated Cardiomyopathy Type 1GG Genetic Test TEST-4351 LOINC 94800-2 This test evaluates the SDHA gene for pathogenic variants associated with Dilated Cardiomyopathy Type 1GG. Whole Blood (Peripheral) – Standard Venipuncture or FTA Card 3–4 Weeks 2,800.00 AED Details
SDHA Gene Leigh Syndrome Genetic Test TEST-4646 LOINC 95219-5 This test evaluates the SDHA gene for mutations associated with Leigh syndrome, a severe mitochondrial disorder. Blood, Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
SDHD Gene Carcinoid Tumor (Intestinal) Genetic Test TEST-2110 LOINC 81247-9 This genetic test analyzes the SDHD gene for mutations associated with an increased risk of hereditary intestinal carcinoid tumors and paragangliomas. Peripheral whole blood, buccal swab, or FTA card 3–4 Weeks 2,800.00 AED Details
SDHD Gene Paraganglioma Type 1 Genetic Test TEST-1950 LOINC 94483-2 This test evaluates the SDHD gene for germline mutations associated with hereditary paraganglioma type 1 syndrome. Peripheral Whole Blood 3 – 4 Weeks 2,800.00 AED Details
SECISBP2 Gene Thyroid Hormone Metabolism Abnormalities Genetic Test TEST-3498 LOINC 21636-6 This genetic test detects pathogenic variants in the SECISBP2 gene associated with thyroid hormone metabolism abnormalities. Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED Details
SEMA3A Gene (Kallmann Syndrome) Sequencing Test TEST-3670 LOINC 81247-9 This test evaluates the SEMA3A gene for mutations associated with Kallmann syndrome. Peripheral Whole Blood 3 to 4 Weeks 2,800.00 AED Details
SERPIN1 Gene Familial Encephalopathy with Neuroserpin Inclusion Bodies Genetic Test TEST-4322 LOINC 21636-6 This genetic test evaluates the SERPIN1 gene for pathogenic variants associated with Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB)... Peripheral blood (EDTA), dried blood spot (FTA card), or extracted genomic DNA 3 to 4 Weeks 2,800.00 AED Details
SERPINC1 Gene Antithrombin III Deficiency Genetic Test TEST-4105 LOINC 90368-6 This genetic test evaluates the SERPINC1 gene for mutations causing hereditary antithrombin III deficiency. Whole Blood (Peripheral) 3–4 Weeks 2,800.00 AED Details
SETD5 Gene Genetic Test for Autosomal Dominant Intellectual Disability Type 23 (MRD23) TEST-4924 LOINC 81247-9 This test detects pathogenic variants in the SETD5 gene associated with autosomal dominant intellectual disability type 23 (MRD23). Whole Blood (3 mL) 3–4 weeks 2,800.00 AED Details
SFTPB Gene Surfactant Metabolism Dysfunction Type 1 Genetic Test TEST-5864 LOINC 93239-9 This test evaluates the SFTPB gene for pathogenic variants associated with surfactant metabolism dysfunction type 1. Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot 3 to 4 Weeks 2,800.00 AED Details
SGCA Gene Limb‑Girdle Muscular Dystrophy Type 2D Genetic Test TEST-4726 LOINC 95983-4 This genetic test identifies pathogenic variants in the SGCA gene associated with Limb-Girdle Muscular Dystrophy Type 2D (LGMD2D). Peripheral Whole Blood (EDTA) 3-4 Weeks 2,800.00 AED Details
SI Gene Sucrase-Isomaltase Deficiency Genetic Test TEST-5873 LOINC 81319-8 This test evaluates the SI gene for pathogenic variants associated with congenital sucrase-isomaltase deficiency (CSID). Peripheral Whole Blood or FTA Card 3 – 4 Weeks 2,800.00 AED Details
SIGMAR1 Gene ALS Type 16 Genetic Test TEST-3800 LOINC 94436-0 This test identifies pathogenic variants within the SIGMAR1 gene associated with Amyotrophic Lateral Sclerosis Type 16 (ALS16). Whole Blood (EDTA), Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
SLC12A1 Gene (Bartter Syndrome Type 1) Next-Generation Sequencing (NGS) Genetic Test TEST-3922 LOINC 21634-2 This test evaluates the SLC12A1 gene for pathogenic variants associated with Bartter syndrome type 1. Whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) 3 to 4 weeks from sample receipt 2,800.00 AED Details
SLC12A2 Gene Next-Generation Sequencing (Genetic Test for Bartter Syndrome TEST-3933 LOINC 94220-2 This test analyzes the entire SLC12A2 gene to detect pathogenic variants associated with Bartter syndrome type 1. Whole blood (EDTA), extracted DNA, or FTA card 3–4 weeks 2,800.00 AED Details
SLC12A7 Gene Bartter Syndrome Genetic Test TEST-3878 LOINC 21674-2 This test evaluates the SLC12A7 gene for pathogenic variants associated with Bartter syndrome. Peripheral Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED Details
SLC16A1 Gene Erythrocyte Lactate Transporter Defect Genetic Test TEST-6355 LOINC 92834-7 This genetic test identifies pathogenic variants in the SLC16A1 gene, which encodes the erythrocyte lactate transporter MCT1. Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
SLC16A1 Gene Hyperinsulinemic Hypoglycemia Type 7 Genetic Test TEST-6233 LOINC 82619-4 This test identifies genetic mutations in the SLC16A1 gene associated with congenital hyperinsulinemic hypoglycemia type 7. Whole blood (EDTA) or dried blood spot on FTA card 3–4 weeks 2,800.00 AED Details
SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency Genetic Test TEST-5952 LOINC 31209-3 This genetic test identifies pathogenic variants in the SLC16A1 gene associated with Monocarboxylate Transporter 1 deficiency. Whole Blood (EDTA), Extracted DNA, or FTA Card 21 – 28 days 2,800.00 AED Details
SLC16A2 Gene Pelizaeus‑Merzbacher Disease & Allan‑Herndon‑Dudley Syndrome Genetic Test TEST-5544 LOINC 82992-1 This genetic test evaluates the SLC16A2 (MCT8) gene for pathogenic variants associated with Pelizaeus‑Merzbacher disease and Allan‑Herndon‑Dudley synd... Peripheral whole blood (EDTA) 3–4 weeks 2,800.00 AED Details
SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test TEST-4378 LOINC 77074-2 This test identifies pathogenic variants in the SLC19A3 gene associated with thiamine-transporter-2 deficiency. Whole Blood or Dried Blood Spot (FTA Card) 3–4 weeks 2,800.00 AED Details
SLC1A3 Gene Episodic Ataxia Type 6 Genetic Test TEST-4390 LOINC 94075-0 This test evaluates the SLC1A3 gene for mutations associated with Episodic Ataxia Type 6. Whole Blood, Extracted DNA, or Dried Blood Spot on FTA Card 3–4 Weeks 2,800.00 AED Details
SLC1A4 Gene Genetic Test for Developmental Delay & Microcephaly TEST-4156 LOINC 81247-9 This test evaluates the SLC1A4 gene for pathogenic variants associated with developmental delay and progressive microcephaly. Whole Blood (EDTA) – 2 mL 3–4 Weeks 2,800.00 AED Details
SLC20A2 Gene Idiopathic Basal Ganglia Calcification Type 1 Test TEST-3072 LOINC 101376-5 This diagnostic test evaluates the SLC20A2 gene for pathogenic variants associated with idiopathic basal ganglia calcification type 1 (Fahr's disease)... Peripheral Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
SLC22A12 Gene Hypouricemia, Renal Type 1 Genetic Test TEST-6154 LOINC 21636-6 This genetic test evaluates the SLC22A12 gene for mutations causing hereditary renal hypouricemia type 1. Whole blood (EDTA), extracted DNA, or FTA card blood spot 3 – 4 weeks 2,800.00 AED Details
SLC25A19 Gene (Thiamine Metabolism Dysfunction Syndrome 4, Progressive Polyneuropathy Type) Genetic Test TEST-5913 LOINC 94455-4 This genetic test evaluates the SLC25A19 gene for pathogenic variants associated with Thiamine Metabolism Dysfunction Syndrome 4 (progressive polyneur... Whole blood (EDTA) or Dried Blood Spot (FTA card) 3–4 Weeks from sample receipt 2,800.00 AED Details
SLC26A3 Gene Congenital Secretory Chloride Diarrhea Type 1 Genetic Test TEST-6238 LOINC 81324-1 This diagnostic test evaluates the SLC26A3 gene for pathogenic mutations associated with congenital secretory chloride diarrhea type 1 (DIAR1). Whole blood (EDTA) or dried blood spot (FTA card) 3–4 weeks from sample receipt (expedited neonatal reports available within 10 days) 2,800.00 AED Details
SLC26A6 Gene Hyperoxaluria Genetic Test TEST-6153 LOINC 93931-6 This test identifies mutations in the SLC26A6 gene associated with primary hyperoxaluria type 2, a metabolic disorder leading to kidney stones. Peripheral whole blood (EDTA) or buccal swab (FTA card) 3–4 Weeks 2,800.00 AED Details
SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 Genetic Test TEST-4526 LOINC 78041-6 This genetic test analyzes the SLC2A1 gene for mutations associated with Glucose Transporter Type 1 Deficiency Syndrome. Peripheral whole blood (EDTA) or DNA FTA card 3–4 weeks from sample receipt 2,800.00 AED Details
SLC2A5 Gene Fructose Uptake Deficiency Genetic Test TEST-6302 LOINC 90995-1 This genetic test evaluates the SLC2A5 gene for variants associated with fructose malabsorption. Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
SLC35C1 Gene Genetic Test (Leukocyte Adhesion Deficiency Type II / CDG Type IIc) TEST-4533 LOINC 81319-1 This genetic test evaluates the SLC35C1 gene for pathogenic variants associated with LAD II and CDG Type IIc. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
SLC39A13 Gene Spondylocheirodysplasia, Ehlers-Danlos Syndrome‑like Genetic Test TEST-4545 LOINC 81247-9 This test detects pathogenic variants in the SLC39A13 gene associated with Spondylocheirodysplasia and Ehlers-Danlos syndrome-like conditions. Peripheral Whole Blood (EDTA Tube or FTA Card) 3 – 4 Weeks 2,800.00 AED Details
SLC45A2 Gene Test TEST-5464 LOINC 81226-7 This test identifies pathogenic variants in the SLC45A2 gene, which are responsible for Oculocutaneous Albinism Type 4, a rare autosomal recessive dis... Whole Blood (EDTA), FTA Card, or Extracted DNA 3 to 4 Weeks 2,800.00 AED Details
SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 Genetic Test TEST-3592 LOINC 21636-6 This genetic test analyzes the SLC4A11 gene to detect mutations associated with corneal endothelial dystrophy type 2. Whole blood (EDTA), buccal swab, extracted DNA, or FTA card 3–4 weeks from sample receipt 2,800.00 AED Details
SLC4A4 Gene Renal Tubular Acidosis, Proximal, with Ocular Abnormalities Genetic Test TEST-3532 LOINC 51963-5 This genetic test identifies mutations in the SLC4A4 gene associated with proximal renal tubular acidosis type II and associated ocular abnormalities. Whole Blood (EDTA), Extracted DNA (≥1 µg), or FTA Card 3–4 Weeks 2,800.00 AED Details
SLC4A5 Gene (Renal Tubular Acidosis) Test TEST-3492 LOINC 81245-8 This genetic test identifies pathogenic variants in the SLC4A5 gene, which are associated with proximal renal tubular acidosis with ocular abnormaliti... Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
SLC52A2 Gene Brown‑Vialetto‑Van Laere Syndrome Type 2 Genetic Test TEST-5791 LOINC 103527-5 This genetic test identifies pathogenic variants in the SLC52A2 gene associated with Brown‑Vialetto‑Van Laere syndrome type 2. Peripheral Whole Blood (EDTA) or Extracted DNA; also FTA card acceptable. 3–4 Weeks 2,800.00 AED Details
SLC5A1 Gene Glucose/Galactose Malabsorption Genetic Test TEST-6337 LOINC 94027-2 This test identifies pathogenic variants in the SLC5A1 gene, which are the cause of glucose/galactose malabsorption (GGM). It provides a definitive mo... Whole Blood, Extracted DNA, or FTA Card 3–4 weeks from sample collection 2,800.00 AED Details
SLC5A5 Gene Thyroid Dyshormonogenesis Type 1 Genetic Test TEST-3471 LOINC 96728-9 This genetic test evaluates the SLC5A5 gene for pathogenic variants associated with thyroid dyshormonogenesis type 1, an iodide transport defect. Peripheral blood (whole blood in EDTA tube) 3–4 weeks 2,800.00 AED Details
SLC7A7 Gene Lysinuric Protein Intolerance Genetic Test TEST-3654 LOINC 21636-6 This genetic test evaluates the SLC7A7 gene for pathogenic variants associated with Lysinuric Protein Intolerance (LPI). Peripheral Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED Details
SLC9A3R1 Gene Analysis for Nephrolithiasis/Osteoporosis, Hypophosphatemic Type 2 Test TEST-4777 LOINC 81247-9 This diagnostic test evaluates the SLC9A3R1 gene for pathogenic variants associated with hereditary hypophosphatemic nephrolithiasis, osteoporosis, an... Peripheral whole blood (EDTA tube, 5 mL) 3–4 weeks 2,800.00 AED Details
SLC9A3R1 Genetic Test (Nephrolithiasis/Osteoporosis, Hypophosphatemic Type 2) TEST-3668 LOINC 47527-7 This diagnostic test evaluates for pathogenic variants in the SLC9A3R1 gene associated with autosomal recessive nephrolithiasis/osteoporosis, hypophos... Peripheral whole blood or extracted DNA (EDTA tube) 3–4 weeks 2,800.00 AED Details
SLCO1B1 Gene Rotor‑type Hyperbilirubinemia Genetic Test TEST-3749 LOINC 81247-9 This genetic test identifies pathogenic variants in the SLCO1B1 gene associated with Rotor syndrome. Whole blood (EDTA), dried blood spot (FTA card), or extracted DNA 3–4 weeks from sample receipt 2,800.00 AED Details
SLCO1B3 Gene Hyperbilirubinemia (Rotor Type) Genetic Test TEST-3791 LOINC 77735-7 This genetic test identifies mutations in the SLCO1B3 gene associated with Rotor syndrome, a hereditary cause of conjugated hyperbilirubinemia. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
SLCO2A1 Gene Hypertrophic Osteoarthropathy Type 2 Genetic Test TEST-5034 LOINC 76002-6 This genetic test identifies pathogenic variants in the SLCO2A1 gene associated with primary hypertrophic osteoarthropathy type 2. Peripheral whole blood, FTA card, or pre-extracted DNA 3–4 Weeks 2,800.00 AED Details
SMAD3 Gene (Loeys‑Dietz Syndrome Type 1C) Genetic Test TEST-4819 LOINC 21636-6 This genetic test identifies pathogenic variants in the SMAD3 gene associated with Loeys‑Dietz syndrome type 1C. Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
SMC3 Gene (Cornelia de Lange Syndrome Type 3) Genetic Test TEST-5297 LOINC 60567-5 This diagnostic test evaluates the SMC3 gene for pathogenic variants associated with Cornelia de Lange syndrome type 3. Peripheral whole blood (EDTA) or Dried Blood Spot 3–4 Weeks 2,800.00 AED Details
SNCA Gene (PARK4) Parkinson Genetic Test TEST-5520 LOINC 80560-6 This test evaluates the SNCA gene for pathogenic variants associated with autosomal dominant Parkinson's disease. Peripheral whole blood, Extracted DNA, FTA Card 3 to 4 Weeks 2,800.00 AED Details
SNRPE Gene Hypotrichosis Type 11 Genetic Test TEST-4993 LOINC 94247-3 This test identifies pathogenic variants within the SNRPE gene associated with hereditary hypotrichosis type 11 using Next Generation Sequencing. Whole Blood, Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
SOHLH1 Gene Oogenesis Dysfunction Genetic Test TEST-3392 LOINC 94138-2 This genetic test analyzes the SOHLH1 gene for variants associated with oogenesis dysfunction, primary ovarian insufficiency, and infertility. Peripheral whole blood 3–4 Weeks 2,800.00 AED Details
SOST Gene Sclerosteosis Type 1 Genetic Test TEST-2363 LOINC 33811-0 This genetic test evaluates the SOST gene for pathogenic variants associated with Sclerosteosis type 1. Whole Blood (EDTA) or Dried Blood Spot (FTA Card) 3-4 Weeks 2,800.00 AED Details
SOX3 Gene Genetic Test TEST-5088 LOINC 81315-0 This test identifies pathogenic variants in the SOX3 gene associated with X-linked intellectual disability and isolated growth hormone deficiency. Peripheral whole blood (EDTA) or dried blood spot (FTA card) 21–28 calendar days 2,800.00 AED Details
SOX3 Gene Panhypopituitarism, X-Linked Genetic Test TEST-3558 LOINC 81464-6 This test identifies pathogenic sequence variants, deletions, and duplications in the SOX3 gene associated with X-linked panhypopituitarism. Peripheral whole blood (EDTA tube), extracted DNA, or dried blood spot (FTA card) 3–4 Weeks 2,800.00 AED Details
SP7 Gene Osteogenesis Imperfecta Type 12 Genetic Test TEST-4708 LOINC 81247-9 This test detects pathogenic variants in the SP7 gene to diagnose autosomal recessive osteogenesis imperfecta type XII (OI-XII). Whole blood (EDTA) or dried blood spot (FTA card) 3 – 4 weeks 2,800.00 AED Details
SPART (SPG20) Gene Genetic Test TEST-5735 LOINC 48817-2 This test detects pathogenic variants in the SPG20 gene associated with hereditary spastic paraplegia (Troyer syndrome). Whole blood (EDTA), dried blood spot (FTA card), or extracted DNA 3 – 4 Weeks 2,800.00 AED Details
SPAST Gene (SPG4) Next-Generation Sequencing (NGS) Genetic Test TEST-5758 LOINC 95803-7 This test evaluates the SPAST gene for pathogenic mutations associated with hereditary spastic paraplegia type 4 (HSP-SPG4). Peripheral whole blood (EDTA), extracted DNA, or FTA card sample 3–4 weeks 2,800.00 AED Details
SPINK1 Gene Pancreatitis Next-Generation Sequencing (NGS) Genetic Test TEST-3608 LOINC 21674-2 This genetic test evaluates the SPINK1 gene for pathogenic variants associated with hereditary pancreatitis and pancreatic cancer risk. Standard Peripheral Whole Blood 3 to 4 Weeks 2,800.00 AED Details
Spinocerebellar Ataxia (SCA) Genetic Panel (Types 1, 2, 3, 6, 7, 10 & 12) Test TEST-1093 LOINC 86210-1 This test identifies specific genetic mutations associated with Spinocerebellar Ataxia (SCA) subtypes 1, 2, 3, 6, 7, 10, and 12. Peripheral Whole Blood 5-7 Business Days 2,000.00 AED Details
Spinocerebellar Ataxia Type 3 (SCA3) ATXN3 Gene Mutation Analysis Test TEST-3075 LOINC 21660-2 This diagnostic test evaluates the ATXN3 gene for CAG trinucleotide repeat expansions, which are the cause of Spinocerebellar Ataxia Type 3. Whole blood 4–5 business days (sample collection Tuesday before 11 AM, report Saturday) 750.00 AED Details
SPRED1 Gene Neurofibromatosis Type 1-Like Syndrome (Legius Syndrome) Genetic Test TEST-4757 LOINC 95003-0 This genetic test analyzes the SPRED1 gene to identify pathogenic variants associated with Legius syndrome, a condition mimicking Neurofibromatosis Ty... Whole blood (EDTA), extracted DNA, or FTA card blood spot 3–4 weeks 2,800.00 AED Details
SPRED1 Gene Neurofibromatosis Type 1‑Like Syndrome (Legius Syndrome) Genetic Test TEST-1958 LOINC 77639-7 This test evaluates the SPRED1 gene for variants associated with Legius syndrome, an NF1-like disorder. Peripheral whole blood (EDTA tube or FTA card) 3–4 weeks 2,800.00 AED Details
SRP72 Gene Sequencing for Bone Marrow Failure Syndrome Type 1 Test TEST-3342 LOINC 101430-3 This diagnostic test evaluates the SRP72 gene for pathogenic variants associated with autosomal recessive bone marrow failure syndrome type 1 (BMFS1). Whole blood (3–5 mL in EDTA tube), Extracted DNA, or FTA card 3 to 4 Weeks 2,800.00 AED Details
SS18L1 Gene Amyotrophic Lateral Sclerosis and CREST-Related Genetic Test TEST-3821 LOINC 21636-6 This test identifies pathogenic variants within the SS18L1 gene associated with Amyotrophic Lateral Sclerosis (ALS) and CREST syndrome. Whole Blood (Peripheral), Saliva, or Extracted DNA 3 to 4 Weeks 2,800.00 AED Details
ST14 Gene Genetic Test for Autosomal Recessive Congenital Ichthyosis Type 11 (ARCI11) TEST-4979 LOINC 81247-9 This diagnostic test evaluates the ST14 gene for variants associated with autosomal recessive congenital ichthyosis type 11 (ARCI11). Whole Blood (EDTA) or Dried Blood Spot (FTA card) 3 to 4 weeks 2,800.00 AED Details
ST6GAL2 Gene Beta-Galactoside Alpha-2,6-Sialyltransferase 2 Deficiency Genetic Test TEST-6021 LOINC 94473-4 This genetic test identifies pathogenic variants in the ST6GAL2 gene, confirming or ruling out Beta-Galactoside Alpha-2,6-Sialyltransferase 2 deficien... Whole blood (peripheral), extracted DNA, or FTA card spot 3 to 4 Weeks 2,800.00 AED Details
STAC3 Gene Native American Myopathy Genetic Test TEST-2510 LOINC 55233-1 This test detects pathogenic variants in the STAC3 gene associated with Native American myopathy. Whole Blood or Buccal Swab 21 - 28 Days 2,800.00 AED Details
STAMBP Gene Microcephaly‑Capillary Malformation Syndrome NGS Test TEST-4994 LOINC 92868-0 This test identifies pathogenic variants in the STAMBP gene associated with microcephaly‑capillary malformation syndrome. Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Saliva (Oragene DNA Kit) 3–4 weeks 2,800.00 AED Details
STAR Gene Lipoid Congenital Adrenal Hyperplasia Genetic Test TEST-3664 LOINC 82377-1 This genetic test evaluates the STAR gene for pathogenic variants associated with Lipoid Congenital Adrenal Hyperplasia (LCAH). It identifies mutation... Whole Blood (Peripheral) or DNA Extract 3–4 Weeks 2,800.00 AED Details
STAT1 Gene Atypical Mycobacterial Infection Genetic Test TEST-5382 LOINC 100398-6 This genetic test analyzes the STAT1 gene for mutations associated with an increased risk of developing severe infections caused by atypical mycobacte... Peripheral blood (2 mL EDTA) 3–4 Weeks 2,800.00 AED Details
STAT3 Gene Hyper‑IgE Syndrome Genetic Test TEST-5015 LOINC 101501-7 This test evaluates the STAT3 gene for pathogenic variants associated with Autosomal Dominant Hyper-IgE Syndrome (AD-HIES). Whole blood (EDTA), extracted DNA, or FTA card blood spot 3–4 Weeks 2,800.00 AED Details
STXBP1 Gene (Early Infantile Epileptic Encephalopathy Type 4) Genetic Test TEST-4273 LOINC 94058-8 This test identifies pathogenic mutations in the STXBP1 gene associated with early infantile epileptic encephalopathy type 4 (EIEE4). It uses Next-Gen... Whole Blood (EDTA), Extracted Genomic DNA, or FTA Card Dried Blood Spot 3–4 weeks (21–28 business days) 2,800.00 AED Details
SUGCT Gene Glutaric Aciduria Type 3 Genetic Test TEST-6392 LOINC 94222-3 This genetic test identifies pathogenic variants in the SUGCT gene, confirming a diagnosis of glutaric aciduria type 3. Peripheral Whole Blood (3–5 mL in EDTA tube); alternative: buccal swab for neonates 3–4 Weeks (expedited reporting for critically ill neonates) 2,800.00 AED Details
SULT2A1 Gene Polycystic Ovary Syndrome Type 1 Genetic Test TEST-3575 LOINC 86727-5 This test identifies pathogenic variants in the SULT2A1 gene associated with type 1 Polycystic Ovary Syndrome (PCOS). It uses Next-Generation Sequenci... Peripheral whole blood (also accepted: extracted DNA, FTA card) 3 – 4 Weeks 2,800.00 AED Details
SYNE1 Gene Spinocerebellar Ataxia Type 8 (Autosomal Recessive) Genetic Test TEST-5904 LOINC 83511-4 This genetic test identifies pathogenic variants in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8 (SCAR8). Peripheral Whole Blood or Dried Blood Spot (FTA Card) 3–4 weeks 2,800.00 AED Details
TAB2 Gene (Congenital Heart Defects, Multiple Types) Genetic Test TEST-4224 LOINC 21636-6 This genetic test evaluates the TAB2 gene for pathogenic variants associated with multiple types of congenital heart defects. Peripheral Blood (Whole Blood) 3–4 Weeks 2,800.00 AED Details
TACO1 Gene Analysis for Leigh Syndrome (Mitochondrial Complex IV Deficiency) Test TEST-4748 LOINC 94872-0 This test identifies pathogenic variants in the TACO1 gene, a known cause of Leigh syndrome associated with mitochondrial complex IV deficiency. Whole blood (EDTA tube), extracted DNA, dried blood spot (FTA card) 21–28 business days 2,800.00 AED Details
TACR3 Gene Hypogonadotropic Hypogonadism Type 11 Genetic Test TEST-3720 LOINC 81265-7 This diagnostic test evaluates the TACR3 gene for mutations associated with congenital hypogonadotropic hypogonadism type 11. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
TAF2 Gene MRT40 Genetic Test TEST-4873 LOINC 82306-7 This test identifies pathogenic variants in the TAF2 gene associated with autosomal recessive mental retardation type 40 (MRT40). Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
Targeted Mutation Analysis (1 Mutation) Test TEST-1089 LOINC 84452-4 This test identifies the presence or absence of a single, pre-specified genetic mutation using Sanger sequencing. Peripheral whole blood (EDTA or ACD tube) 10–15 working days 1,200.00 AED Details
TARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 21 Genetic Test TEST-6152 LOINC 88883-9 This genetic test identifies pathogenic variants in the TARS2 gene associated with Combined Oxidative Phosphorylation Deficiency Type 21. Whole Blood (EDTA), Extracted DNA, or Buccal Swab (FTA Card) 3–4 Weeks 2,800.00 AED Details
TBC1D24 Gene Familial Infantile Myoclonic Epilepsy Genetic Test TEST-4410 LOINC 94037-1 This test detects pathogenic variants in the TBC1D24 gene associated with familial infantile myoclonic epilepsy. Peripheral Whole Blood (EDTA tube) or FTA Card Dried Blood Spot 3–4 Weeks 2,800.00 AED Details
TBR1 Gene Genetic Test for Intellectual Disability TEST-4563 LOINC 82370-6 This test identifies pathogenic variants within the TBR1 gene using Next-Generation Sequencing (NGS). It is used to diagnose TBR1-related neurodevelop... Whole Blood, Extracted DNA, FTA Card (dried blood spot) 3 – 4 Weeks 2,800.00 AED Details
TBX3 Gene Ulnar-Mammary Syndrome Genetic Test TEST-2210 LOINC 78941-3 This test evaluates the entire coding region of the TBX3 gene for pathogenic variants associated with Ulnar-Mammary Syndrome (ULMM). It assesses hered... Peripheral Whole Blood (EDTA tube) or FTA Card Finger-Prick 3–4 Weeks (21–28 calendar days); urgent expedite available upon request 2,800.00 AED Details
TBXAS1 Gene Thromboxane Synthase Deficiency Genetic Test TEST-3118 LOINC 94465-9 This test identifies pathogenic variants in the TBXAS1 gene associated with thromboxane synthase deficiency, a rare inherited platelet disorder. Whole Blood (EDTA) or Dried Blood Spot (FTA Card) 21–28 Days 2,800.00 AED Details
TCTN3 Gene Joubert Syndrome Type 18 Genetic Test TEST-4580 LOINC 21636-6 This genetic test identifies pathogenic variants within the TCTN3 gene associated with Joubert syndrome type 18. Whole Blood (Peripheral) 21–28 Days 2,800.00 AED Details
TDRD7 Gene Cataract, Autosomal Recessive Congenital Type 4 Genetic Test TEST-3547 LOINC 81258-2 This test identifies pathogenic variants in the TDRD7 gene associated with autosomal recessive congenital cataract type 4 (ARCC4). Peripheral Whole Blood, Dried Blood Spot (FTA card), or Extracted DNA 3–4 weeks from sample receipt 2,800.00 AED Details
TEL/AML1 Qualitative Test TEST-1084 LOINC 49797-6 This test detects the presence of the ETV6-RUNX1 fusion transcript, a common genetic marker in B-cell acute lymphoblastic leukemia (ALL). Bone Marrow Aspirate or Peripheral Blood 3–4 days 600.00 AED Details
TENM1 Gene Colobomatous Microphthalmia Genetic Test TEST-3552 LOINC 48018-6 This diagnostic test evaluates the TENM1 gene for pathogenic variants associated with colobomatous microphthalmia. Whole Blood, Dried Blood Spot (FTA Card), or Extracted DNA 3–4 Weeks 2,800.00 AED Details
TFAP2B Gene Char Syndrome Genetic Test TEST-2981 LOINC 81319-5 This genetic test evaluates the TFAP2B gene for mutations associated with Char syndrome. Peripheral whole blood (or FTA card for neonates) 3–4 weeks 2,800.00 AED Details
TG Gene Thyroid Dyshormonogenesis Type 3 Genetic Test TEST-3467 LOINC 98137-4 This genetic test detects pathogenic variants in the thyroglobulin (TG) gene associated with congenital hypothyroidism and goitre. Whole Blood (Peripheral) 21 calendar days 2,800.00 AED Details
TGFB1 Gene Camurati‑Engelmann Disease Genetic Test TEST-3026 LOINC 82939-0 This test evaluates the entire coding region and splice sites of the TGFB1 gene for variants associated with Camurati-Engelmann disease. Whole blood (EDTA), extracted genomic DNA, or FTA card spot 3 to 4 weeks 2,800.00 AED Details
TGFBR1 Gene Loeys-Dietz Syndrome Type 1A Genetic Test TEST-4823 LOINC 81307-4 This test detects pathogenic variants in the TGFBR1 gene associated with Loeys-Dietz syndrome type 1A. EDTA whole blood, Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED Details
TGIF1 Gene Holoprosencephaly Type 4 Genetic Test TEST-2751 LOINC 55233-1 This genetic test analyzes the TGIF1 gene to detect pathogenic variants associated with holoprosencephaly type 4. Whole Blood (EDTA), Extracted DNA, or FTA Card 3–4 weeks 2,800.00 AED Details
TH Gene Segawa Syndrome, Autosomal Recessive Genetic Test TEST-5677 LOINC 81309-1 This test evaluates the tyrosine hydroxylase (TH) gene for pathogenic variants associated with autosomal recessive Segawa syndrome (dopa-responsive dy... Whole blood (EDTA), pre-extracted DNA, or FTA card 3–4 weeks 2,800.00 AED Details
Thalassemia Beta Complete Gene Analysis with Maternal Cell Contamination (MCC) Test TEST-3265 LOINC 21620-0 This test evaluates the fetal beta-globin gene for mutations associated with beta-thalassemia and confirms the absence of maternal cell contamination. Amniotic fluid or Chorionic Villus Sample 21 Working Days 2,800.00 AED Details
Thalassemia Beta Mutation Analysis Test TEST-3259 LOINC 46738-3 This test identifies pathogenic variants in the HBB gene associated with beta-thalassemia. Peripheral Whole Blood (Lavender Top EDTA) 5 working days 1,200.00 AED Details
THSD1 Gene Thrombospondin Type 1 Domain-Containing Protein 1 Genetic Test TEST-4532 LOINC 88850-6 This test evaluates the entire coding region and splice sites of the THSD1 gene for pathogenic variants. Peripheral Blood, FTA Card, or Extracted DNA 3 to 4 Weeks 2,800.00 AED Details
TIMM8A Gene Dystonia-Deafness Syndrome Genetic Test TEST-4185 LOINC 93175-2 This genetic test analyzes the TIMM8A gene to detect mutations associated with Mohr‑Tranebjaerg syndrome, a rare X-linked disorder causing dystonia an... Peripheral Whole Blood 3 – 4 Weeks 2,800.00 AED Details
TIMP1 Gene Bicuspid Aortic Valve Genetic Test TEST-4394 LOINC 81247-9 This test evaluates for pathogenic variants in the TIMP1 gene associated with an increased risk of developing bicuspid aortic valve. Whole blood (EDTA), FTA card, or extracted genomic DNA 3 to 4 weeks 2,800.00 AED Details
TJP1 Deficiency Test TEST-5786 LOINC 103204-5 This test evaluates the TJP1 gene for pathogenic variants associated with TJP1 deficiency using Next-Generation Sequencing (NGS). It identifies single... Whole blood (EDTA) or FTA card 3–4 weeks 2,800.00 AED Details
TMEM216 Gene Joubert Syndrome Type 2 Genetic Test TEST-4662 LOINC 82939-0 This genetic test identifies pathogenic variants in the TMEM216 gene, which are associated with Joubert syndrome type 2, a rare neurodevelopmental dis... Peripheral whole blood (venous draw) 3–4 weeks 2,800.00 AED Details
TMEM38B Gene Osteogenesis Imperfecta Type 14 Genetic Test TEST-4705 LOINC 21643-8 This test evaluates the TMEM38B gene for mutations associated with Osteogenesis Imperfecta type 14. Peripheral Whole Blood (DNA-stabilizing tube) 3–4 Weeks (expedited available) 2,800.00 AED Details
TMEM67 Gene COACH Syndrome Genetic Test TEST-4122 LOINC 21759-9 This test evaluates the TMEM67 gene for mutations associated with COACH syndrome. Whole Blood (EDTA), Extracted DNA, or DNA FTA Card 3 to 4 Weeks 2,800.00 AED Details
TMEM67 Gene Joubert Syndrome Type 6 Genetic Test TEST-4598 LOINC 21663-5 This test analyzes the TMEM67 gene for variants associated with Joubert syndrome type 6, a rare neurodevelopmental disorder. Whole Blood (EDTA) or Saliva 3–4 Weeks 2,800.00 AED Details
TNFAIP3 Gene (Rheumatoid Arthritis Susceptibility) Next‑Generation Sequencing DNA Test TEST-4600 LOINC 69787-6 This test evaluates the TNFAIP3 gene for variants associated with increased susceptibility to rheumatoid arthritis and related autoimmune disorders. Whole Blood (EDTA), Extracted DNA, or FTA Card 21–28 Business Days 2,800.00 AED Details
TNFRSF13B Gene Common Variable Immunodeficiency Type 2 Genetic Test TEST-4940 LOINC 69568-0 This genetic test identifies pathogenic variants in the TNFRSF13B gene associated with Common Variable Immunodeficiency Type 2 (CVID2). Blood / DNA / FTA Card 3–4 Weeks 2,800.00 AED Details
TNFSF11 Gene Osteopetrosis, Autosomal Recessive Type 2 Genetic Test TEST-4676 LOINC 88515-7 This genetic test identifies pathogenic variants in the TNFSF11 gene associated with autosomal recessive osteopetrosis type 2. Whole Blood (EDTA), Extracted DNA (TE buffer), Dried Blood Spot (FTA Card) 15–20 business days 2,800.00 AED Details
TP63 Gene (Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate) Genetic Test TEST-3111 LOINC 81320-2 This genetic test detects pathogenic variants in the TP63 gene associated with Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. Whole blood, extracted DNA, or dried blood spot (FTA card) 3–4 Weeks 2,800.00 AED Details
TPI1 Gene Hemolytic Anemia due to Triosephosphate Isomerase Deficiency Genetic Test TEST-3270 LOINC 48018-6 This genetic test identifies mutations in the TPI1 gene associated with triosephosphate isomerase deficiency, a cause of hemolytic anemia and neurolog... Whole blood, extracted DNA, or FTA card 3–4 Weeks 2,800.00 AED Details
TPK1 Gene Thiamine Metabolism Dysfunction Syndrome Type 5 (THMD5) Genetic Test TEST-5847 LOINC 94473-7 This genetic test identifies pathogenic variants in the TPK1 gene associated with Thiamine Metabolism Dysfunction Syndrome Type 5 (THMD5). It utilizes... Whole Blood, Extracted DNA, or FTA Card Blood Spot 3 – 4 Weeks 2,800.00 AED Details
TPP1 Gene (Neuronal Ceroid Lipofuscinosis Type 2) Genetic Test TEST-6080 LOINC 97746-5 This test analyzes the TPP1 gene for mutations associated with Neuronal Ceroid Lipofuscinosis Type 2 (CLN2 disease). It identifies pathogenic variants... Peripheral Whole Blood or FTA Card (Dried Blood Spot) 3–4 Weeks 2,800.00 AED Details
TRPM6 Gene Hypomagnesemia Type 1 Genetic Test TEST-6122 LOINC 93257-0 This genetic test evaluates the TRPM6 gene for mutations associated with hereditary hypomagnesemia type 1. Peripheral whole blood (EDTA tube) 3 to 4 Weeks 2,800.00 AED Details
TRPV3 Gene Olmsted Syndrome Genetic Test TEST-2492 LOINC 50398-7 This diagnostic test evaluates the TRPV3 gene for pathogenic mutations associated with Olmsted syndrome. Peripheral Whole Blood / Extracted DNA / FTA Card 3–4 weeks 2,800.00 AED Details
TRPV4 Gene CMT2C Next-Generation Sequencing (Genetic Test TEST-4071 LOINC 81306-1 This genetic test evaluates the TRPV4 gene for pathogenic variants associated with Charcot‑Marie‑Tooth disease type 2C. Whole Blood (Peripheral Venous Blood) 3–4 weeks 2,800.00 AED Details
TSC1 Gene Tuberous Sclerosis Genetic Test TEST-5834 LOINC 82991-3 This test sequences the entire TSC1 gene to detect pathogenic variants associated with Tuberous Sclerosis Complex (TSC). It identifies the genetic cau... Whole Blood (3–5 mL in EDTA), Extracted DNA, or Buccal Swab / FTA Card 3 to 4 Weeks 2,800.00 AED Details
TSC2 Gene (Tuberous Sclerosis Type 2) Genetic Test TEST-5929 LOINC 57937-2 This test evaluates the TSC2 gene for pathogenic variants associated with Tuberous Sclerosis Complex type 2. Peripheral whole blood (EDTA) 3–4 Weeks 2,800.00 AED Details
TSHB Gene Sequencing for Congenital Nongoitrous Hypothyroidism Type 4 (Genetic Test) TEST-3699 LOINC 53494-5 This test identifies genetic mutations in the TSHB gene responsible for congenital nongoitrous hypothyroidism type 4. Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card 3–4 Weeks 2,800.00 AED Details
TSPYL1 Gene Sudden Infant Death with Dysgenesis of the Testes Syndrome Genetic Test TEST-4104 LOINC 29577-1 This test identifies pathogenic variants in the TSPYL1 gene associated with Sudden Infant Death with Dysgenesis of the Testes Syndrome (SIDDT). Peripheral whole blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 weeks 2,800.00 AED Details
TSR2 Gene Sequencing for Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis Test TEST-2876 LOINC 21636-6 This diagnostic test evaluates the TSR2 gene for pathogenic variants associated with Diamond-Blackfan anemia type 14 and mandibulofacial dysostosis. Peripheral blood (5–10 mL) in EDTA tube or extracted DNA 3–4 Weeks 2,800.00 AED Details
TTC37 Gene Trichohepatoenteric Syndrome Type 1 Genetic Test TEST-4528 LOINC 81373-8 This test identifies pathogenic variants in the TTC37 gene associated with Trichohepatoenteric syndrome type 1 (THES1). Peripheral whole blood (3–5 mL in EDTA tube) 3–4 weeks 2,800.00 AED Details
TTI2 Gene Sequencing (MRT39) Test TEST-4977 LOINC 94218-1 This test evaluates the TTI2 gene for pathogenic variants associated with autosomal recessive intellectual disability type 39 (MRT39). It detects sing... Peripheral whole blood (EDTA tube) or buccal swab / saliva (paediatric cases) 3 to 4 weeks 2,800.00 AED Details
TTN Gene Limb‑Girdle Muscular Dystrophy, Autosomal Recessive Type 2J Genetic Test TEST-4827 LOINC 81308-4 This test identifies pathogenic variants in the TTN gene associated with Limb-Girdle Muscular Dystrophy Type 2J (LGMD2J). Whole Blood (EDTA) 3–4 Weeks 2,800.00 AED Details
TTPA Gene (Familial Vitamin E Deficiency) Genetic Test TEST-5944 LOINC 95819-7 This genetic test identifies mutations in the TTPA gene responsible for causing Ataxia with Vitamin E Deficiency (AVED). It provides a definitive mole... Peripheral whole blood, venous blood, or FTA blood spot (DNA) 3 to 4 weeks 2,800.00 AED Details
TUBA8 Gene Polymicrogyria with Optic Nerve Hypoplasia Genetic Test TEST-2413 LOINC 21636-6 This genetic test analyzes the TUBA8 gene to detect mutations associated with polymicrogyria and optic nerve hypoplasia. Peripheral Whole Blood 3–4 Weeks 2,800.00 AED Details
TUBB4A Gene DYT4 Next‑Generation Sequencing Genetic Test TEST-4265 LOINC 90553-4 This genetic test evaluates the TUBB4A gene for mutations associated with DYT4 dystonia. Whole Blood or Buccal Swab 3–4 Weeks 2,800.00 AED Details
Tuberous Sclerosis Complex (TSC) Genetic Testing Test TEST-2776 LOINC 21636-6 This test detects pathogenic variants in the TSC1 and TSC2 genes associated with Tuberous Sclerosis Complex. Peripheral whole blood 30 working days 3,100.00 AED Details
TUBGCP6 Gene Microcephaly, Chorioretinopathy & Intellectual Disability Genetic Test TEST-2580 LOINC 81247-9 This genetic test evaluates the TUBGCP6 gene for variants associated with microcephaly, chorioretinopathy, and intellectual disability. Whole Blood (EDTA), Extracted DNA, Dried Blood Spot (FTA Card) 3 – 4 Weeks 2,800.00 AED Details
TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4 Genetic Test TEST-6264 LOINC 105406-5 This test identifies genetic variants in the TUFM gene associated with Combined Oxidative Phosphorylation Deficiency Type 4 (COXPD4). Whole Blood (3-5 mL) or Buccal Swab (FTA Card) 3 – 4 Weeks 2,800.00 AED Details
TUSC3 Gene Mental Retardation, Autosomal Recessive Type 7 Genetic Test TEST-4992 LOINC 94500-0 This genetic test identifies pathogenic variants in the TUSC3 gene, which are associated with autosomal recessive mental retardation type 7. Peripheral Whole Blood (EDTA) 21–28 Days (3–4 Weeks) 2,800.00 AED Details
TYK2 Gene (Autosomal Recessive Immunodeficiency Type 35) Genetic Test TEST-4911 LOINC 81247-9 This genetic test analyzes the TYK2 gene to identify mutations causing autosomal recessive immunodeficiency type 35. Peripheral Whole Blood (3–5 mL in EDTA tube); also accepted: extracted DNA (2 µg) or FTA card dried blood spot 3–4 Weeks 2,800.00 AED Details
TYR Gene Albinism (Oculocutaneous Type 1A) Genetic Test TEST-5473 LOINC 93390-5 This test evaluates the entire TYR gene for mutations associated with oculocutaneous albinism type 1A (OCA1A). It provides a definitive molecular diag... Whole Blood (EDTA), Extracted DNA, or FTA Card Spot 3–4 Weeks 2,800.00 AED Details
TYROBP Gene PLOSL (Nasu‑Hakola Disease) Genetic Test TEST-5484 LOINC 81321-6 This genetic test evaluates the entire coding region of the TYROBP gene to detect pathogenic variants associated with Nasu‑Hakola disease. Whole Blood (3–4 mL in DNA tube), Extracted DNA, or FTA Card 3–4 weeks 2,800.00 AED Details
UBE2A Gene Nascimento-Type X-Linked Syndromic Mental Retardation Genetic Test TEST-4892 LOINC 81314-0 This test evaluates the UBE2A gene for pathogenic variants associated with Nascimento-type X-linked syndromic mental retardation. Peripheral blood (EDTA tube) or FTA card (dried blood spot) 3–4 weeks 2,800.00 AED Details
UGT1A1 Gene Crigler-Najjar Syndrome Type 1 Genetic Test TEST-3863 LOINC 48807-8 This genetic test identifies pathogenic variants in the UGT1A1 gene associated with Crigler-Najjar syndrome type 1. Venous Blood or FTA Card (Dried Blood Spot) 3 to 4 Weeks 2,800.00 AED Details
UGT1A1 Gene Gilbert Syndrome Genetic Test TEST-3805 LOINC 77745-3 This genetic test identifies variants in the UGT1A1 gene associated with Gilbert syndrome. Peripheral whole blood (EDTA) or FTA blood spot card 3–4 weeks 2,800.00 AED Details
UGT1A1 Gene Hyperbilirubinemia (Familial Transient Neonatal) Genetic Test TEST-3794 LOINC 21748-8 This diagnostic test evaluates the UGT1A1 gene for variants associated with familial transient neonatal hyperbilirubinemia. Peripheral Whole Blood, Dried Blood Spot (FTA Card) 10-14 Business Days (ISO Fast Track) 2,800.00 AED Details
UMOD Gene Medullary Cystic Kidney Disease Type 2 Genetic Test TEST-3640 LOINC 92907-8 This test identifies mutations in the UMOD gene associated with Medullary Cystic Kidney Disease Type 2. Whole blood, extracted DNA, or FTA card 3–4 Weeks 2,800.00 AED Details
UNC13B Gene Genetic Test for Autism TEST-3913 LOINC 21770-0 This test evaluates the UNC13B gene for pathogenic variants associated with Autism Spectrum Disorder (ASD). It uses Next-Generation Sequencing (NGS) t... EDTA Whole Blood, Dried Blood Spot, or Extracted DNA 3–4 Weeks 2,800.00 AED Details
UNC45B Gene Cataract Type 43 Genetic Test TEST-3513 LOINC 101188-5 This genetic test identifies pathogenic variants in the UNC45B gene associated with autosomal dominant congenital cataract type 43. Peripheral whole blood, FTA card, or extracted DNA 18 – 21 working days 2,800.00 AED Details
UNG Gene Immunodeficiency Type 5 with Hyper-IgM (Genetic Test) TEST-4902 LOINC 32387-5 This genetic test analyzes the UNG gene for pathogenic variants associated with Immunodeficiency Type 5 with Hyper-IgM syndrome. Peripheral whole blood, extracted DNA, or dried blood spot (FTA card) 3–4 Weeks 2,800.00 AED Details
UPF3B Gene Mental Retardation, X-linked Type 14 (Genetic Test) TEST-5013 LOINC 81768-4 This diagnostic test evaluates the UPF3B gene for pathogenic variants associated with X-linked intellectual disability type 14 (MRX14). It utilizes Ne... Whole Blood (EDTA) or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
UROD Gene Porphyria Cutanea Tarda (PCT) Genetic Test TEST-4644 LOINC 90777-8 This test evaluates the UROD gene for pathogenic variants associated with Porphyria Cutanea Tarda (PCT). It helps determine if the condition is inheri... Whole Blood (EDTA), Extracted DNA, or FTA Card 3–4 weeks (express available) 2,800.00 AED Details
USF1 Gene Hyperlipidemia, Familial Combined Susceptibility Test TEST-6230 LOINC 92606-2 This test evaluates the USF1 gene for pathogenic variants linked to familial combined hyperlipidemia. Whole Blood (Peripheral) 3–4 weeks 2,800.00 AED Details
Usher Syndrome NGS & Sanger Testing Test TEST-2747 LOINC 81247-9 This diagnostic test evaluates for pathogenic variants in genes associated with Usher syndrome, a genetic disorder causing progressive vision loss and... Whole blood 45 working days 3,200.00 AED Details
VIPAS39 Gene NGS Test TEST-5394 LOINC 81260-5 This test identifies pathogenic variants in the VIPAS39 gene associated with Arthrogryposis, Renal dysfunction, and Cholestasis (ARC) syndrome type 2. Peripheral whole blood or buccal swab 3–4 weeks 2,800.00 AED Details
Von Willebrand Factor (VWF) Gene Genetic Test TEST-3114 LOINC 82652-2 This test identifies pathogenic variants in the VWF gene associated with von Willebrand disease. Peripheral whole blood (EDTA) or FTA card 3 – 4 Weeks 2,800.00 AED Details
VPS13B Gene Cohen Syndrome Genetic Test TEST-4135 LOINC 83112-3 This test identifies pathogenic variants in the VPS13B gene, confirming a diagnosis of Cohen syndrome. Whole blood (EDTA), FTA card, or extracted DNA 3–4 weeks from sample receipt 2,800.00 AED Details
VPS37A Gene SPG53 Genetic Test TEST-5678 LOINC 21636-6 This test identifies pathogenic variants in the VPS37A gene, confirming a diagnosis of hereditary spastic paraplegia type 53 (SPG53). Peripheral whole blood (EDTA) or FTA card finger-prick 3–4 weeks 2,800.00 AED Details
VPS45 Gene Severe Congenital Neutropenia Type 5 Genetic Test TEST-3226 LOINC 81369-6 This test identifies pathogenic variants in the VPS45 gene associated with severe congenital neutropenia type 5. Peripheral whole blood (EDTA), 3–5 mL; alternative: buccal swab or extracted DNA 3–4 weeks 2,800.00 AED Details
WASHC5 Gene Ritscher‑Schinzel Syndrome Type 1 Genetic Test TEST-2382 LOINC 94473-0 This genetic test identifies pathogenic mutations in the WASHC5 gene, confirming Ritscher‑Schinzel syndrome type 1. Peripheral whole blood 3–4 Weeks from sample receipt 2,800.00 AED Details
WDR19 Gene Cranioectodermal Dysplasia Type 4 Genetic Test TEST-2925 LOINC 98747-9 This test detects pathogenic variants, including single nucleotide variants, indels, and copy number variants, within the WDR19 gene associated with c... Whole Blood (3 mL EDTA), Extracted DNA, or One Drop Blood on FTA Card 3–4 Weeks 2,800.00 AED Details
Whole Genome Genetic Mapping Test TEST-1313 LOINC 81247-9 This test evaluates the entire genome for single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) to assess genetic predispositions. Peripheral Whole Blood 8 weeks from sample collection 30,000.00 AED Details
Wilson Disease ATP7B Gene Mutation Detection Test TEST-3448 LOINC 21636-0 This test identifies pathogenic variants in the ATP7B gene to confirm a diagnosis of Wilson disease. Whole Blood Up to 2 months from sample receipt 6,600.00 AED Details
WNT1 Gene Osteogenesis Imperfecta Type XV Genetic Test TEST-4723 LOINC 81723-5 This test identifies pathogenic variants in the WNT1 gene associated with Osteogenesis Imperfecta Type XV. Whole Blood (EDTA) or Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED Details
WNT7A Gene Sequencing (NGS) Test TEST-2224 LOINC 81231-0 This test evaluates the WNT7A gene for variants associated with Schinzel phocomelia syndrome. Peripheral whole blood (EDTA) or FTA card 3–4 Weeks 2,800.00 AED Details
WS1 Full Gene Sequence Analysis (Wolfram Syndrome, DIDMOAD) Test TEST-1052 LOINC 95419-5 This test evaluates the WFS1 gene for pathogenic variants associated with Wolfram syndrome (DIDMOAD). It identifies genetic mutations that cause this... Peripheral blood, amniotic fluid, chorionic villi, cord blood 4–6 weeks 4,800.00 AED Details
XPA Gene Xeroderma Pigmentosum Group A (XPA) Genetic Test TEST-4486 LOINC 8827-2 This test identifies germline mutations in the XPA gene associated with Xeroderma Pigmentosum Group A. Peripheral whole blood 3–4 weeks 2,800.00 AED Details
XPC Gene (Xeroderma Pigmentosum Group C) Genetic Test TEST-4461 LOINC 94233-5 This genetic test analyzes the XPC gene for pathogenic variants associated with Xeroderma Pigmentosum Group C, a disorder causing extreme UV sensitivi... Whole Blood, FTA Card, or Extracted DNA 3–4 Weeks 2,800.00 AED Details
XRCC4 Gene Genetic Test (Short Stature, Microcephaly, Endocrine Dysfunction) TEST-2334 LOINC 81321-7 This test evaluates the XRCC4 gene for pathogenic mutations linked to specific developmental and endocrine conditions. Peripheral whole blood or extracted DNA 3–4 Weeks 2,800.00 AED Details
YAP1 Gene Coloboma, Ocular, with or without Hearing Impairment, Cleft Lip/Palate, and/or Mental Retardation Genetic Test TEST-3576 LOINC 82382-9 This test evaluates the YAP1 gene for pathogenic variants associated with coloboma-related syndromes. Whole Blood (Peripheral) 3–4 weeks 2,800.00 AED Details
ZBTB16 Gene Sequencing (NGS) Test TEST-2300 LOINC 38075-4 This diagnostic test evaluates the ZBTB16 gene for pathogenic variants associated with skeletal defects, genital hypoplasia, and intellectual disabili... Peripheral whole blood, extracted DNA, or dried blood spot (FTA card) 3–4 weeks 2,800.00 AED Details
ZC4H2 Gene Wieacker‑Wolff Syndrome Genetic Test TEST-5962 LOINC 79255-8 This test identifies mutations in the ZC4H2 gene associated with Wieacker-Wolff syndrome. Whole Blood (Peripheral), FTA Card Dried Blood Spot, or Extracted Genomic DNA 3 – 4 weeks (expedited available) 2,800.00 AED Details
ZEB2 Gene Hirschsprung Disease Genetic Test TEST-2756 LOINC 44397-5 This test evaluates the ZEB2 gene for pathogenic variants associated with Hirschsprung disease and Mowat-Wilson syndrome. Whole Blood (EDTA), Extracted DNA, Dried Blood FTA Card 3 – 4 weeks 2,800.00 AED Details
ZFPM2 Gene Diaphragmatic Hernia Type 3 Genetic Test TEST-4213 LOINC 82939-0 This test identifies pathogenic variants in the ZFPM2 gene associated with congenital diaphragmatic hernia (CDH) type 3. Peripheral whole blood (EDTA), buccal swab, or dried blood spot (FTA card) 3–4 Weeks 2,800.00 AED Details
ZFR Gene SPG71 Genetic Test TEST-5708 LOINC 98430-2 This test identifies pathogenic variants in the ZFR gene associated with Hereditary Spastic Paraplegia type 71 (SPG71). Whole blood (EDTA), extracted DNA, or FTA card 3–4 weeks 2,800.00 AED Details
ZNF423 Gene Nephronophthisis Type 14 Genetic Test TEST-3660 LOINC 81201-3 This test evaluates the ZNF423 gene for pathogenic variants associated with Nephronophthisis Type 14, a rare genetic kidney disorder. Peripheral blood (EDTA) or Dried blood spot 3–4 Weeks 2,800.00 AED Details
ZNF711 Gene Genetic Test (X-Linked Intellectual Disability Type 97) TEST-4961 LOINC 81247-9 This test analyzes the ZNF711 gene for mutations associated with X-linked intellectual disability type 97. Peripheral whole blood, extracted DNA, or dried blood spot on FTA card 3–4 weeks 2,800.00 AED Details

Clinical overview

About Genetic

Unlocking the blueprint of your DNA provides profound, proactive insights into your family’s future and personal health risks. Integrated within our advanced Biochemistry and molecular services, specialized Genetic testing evaluates inherited traits, metabolic predispositions, and carrier statuses. Utilizing cutting-edge diagnostic technology, comprehensive genetic screening offers the vital clarity needed to safely guide tailored medical strategies and family planning. As an undisputed leader in innovation among diagnostic labs in Dubai and the UAE, DNA Labs guarantees the highest standards of strict patient confidentiality, unparalleled diagnostic precision, and rapid reporting. Empower your health decisions with certainty—book your genetic testing in UAE, coordinate a secure sample collection, or connect with our specialized genetics team today.

Before your appointment

Preparation & sample collection

Follow the instructions you are given

Fasting, timing and medicine restrictions differ between investigations. The instructions for your specific request are confirmed when you book.

Bring your identification

A valid photo ID is required at collection so that your sample is matched correctly to your record.

Tell us about medicines

Prescription medicines, supplements and recent procedures can affect how an investigation is scheduled or interpreted — please mention them.

Ask before collection

If anything about preparation is unclear, contact us before your appointment. Preparation errors can affect reporting times.

Patient information

Frequently asked questions

Practical answers about Genetic testing at DNA Labs UAE. This information is general and does not replace advice from your treating clinician.

How do I choose the right Genetic test?

The correct investigation depends on what your clinician is trying to establish. Review the specimen type and turnaround time below, then confirm the choice with your treating doctor before booking.

What specimen is required?

Specimen requirements are listed for each investigation. If a request involves more than one sample type, our team will confirm what is needed at the time of booking.

Do you offer home sample collection in Dubai and the UAE?

Yes. Home collection can be arranged across Dubai and the wider UAE. Availability and appointment windows vary by location, so please confirm when you book.

How long do results take?

Turnaround depends on the investigation and the method used. The expected reporting time is confirmed with you before collection.

Is there anything I need to do before sample collection?

Some investigations require fasting, a specific collection time, or avoiding certain medicines or activities. Preparation details are shared when you book — please follow them and ask if anything is unclear.

How will I receive my report?

Reports are issued as secure digital documents and can be shared with your referring clinician on request. Please review results with a qualified clinician who can interpret them in context.

About this clinical information

The information on this Genetic page describes laboratory investigations in general terms. It is written to help you understand what an investigation involves — it is not a diagnosis and it is not a substitute for advice from your treating clinician.

  • Investigation names, specimen types and listed prices are reviewed against laboratory records.
  • Preparation guidance is indicative — confirm test-specific instructions before collection.
  • Content is updated when investigations, methods or reporting formats change.
  • Results are released to the patient and, on request, shared with the referring clinician.

Medical disclaimer: This page is for general information and education only. It is not medical advice, diagnosis or treatment, and it does not replace a consultation with a qualified healthcare professional. Always seek the advice of your doctor or another qualified provider with any questions about a medical condition or before ordering a test.

We're here to help

Need help choosing a Genetic test?

Tell us what your clinician has requested and we'll confirm availability, price, preparation and the most convenient collection option — including home collection in Dubai and across the UAE.

Call +971 54 548 8731
  • Home collection available across the UAE
  • Digital reports delivered securely
  • Confidential handling of every request

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