Genetics
Single Gene 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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Single Gene investigations
All 332 investigations in this category are listed below.
| Test | What it measures | Specimen | Turnaround | Price | Book |
|---|---|---|---|---|---|
| ABCA1 Gene HDL Deficiency Type 2 Genetic Test TEST-6306 LOINC 21301-0 | This genetic test analyzes the ABCA1 gene to identify mutations causing familial HDL deficiency type 2 (Tangier disease). It helps confirm the diagnos... | Peripheral whole blood | 3–4 Weeks | 2,800.00 AED | Details |
| ABCB6 Gene Dyschromatosis Universalis Hereditaria Type 3 Genetic Test TEST-5244 LOINC 21636-6 | This genetic test analyzes the ABCB6 gene to identify pathogenic variants associated with Dyschromatosis Universalis Hereditaria (DUH) type 3. | Whole Blood (EDTA) or Buccal Swab | 3 – 4 weeks | 2,800.00 AED | Details |
| ACAD8 Gene Isobutyryl-CoA Dehydrogenase Deficiency Genetic Test TEST-6095 LOINC 21619-4 | This genetic test evaluates the ACAD8 gene for pathogenic variants associated with isobutyryl-CoA dehydrogenase deficiency. | Peripheral Whole Blood (EDTA) | 3 – 4 Weeks | 2,800.00 AED | Details |
| ACAT1 Gene Methylacetoacetic Aciduria Genetic Test TEST-6053 LOINC 101401-4 | This test evaluates the ACAT1 gene for pathogenic variants associated with methylacetoacetic aciduria (beta-ketothiolase deficiency). It utilizes next... | Peripheral Whole Blood (EDTA tube) | 3 to 4 Weeks | 2,800.00 AED | Details |
| ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation Test TEST-4538 LOINC 92734-4 | This test evaluates the ACP5 gene for pathogenic variants associated with Spondyloenchondrodysplasia with Immune Dysregulation (SPENCDI). It uses Next... | 2 mL Peripheral Whole Blood (EDTA tube) | 3 to 4 Weeks | 2,800.00 AED | Details |
| ACTG2 Gene Visceral Myopathy Genetic Test TEST-2205 LOINC 54350-0 | This test identifies genetic mutations in the ACTG2 gene associated with visceral myopathy. | Peripheral Whole Blood or Buccal Swab (DNA FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| ACVR1 Gene Sequencing for Fibrodysplasia Ossificans Progressiva (FOP) Test TEST-5072 LOINC 92889-1 | This test identifies mutations within the ACVR1 gene associated with Fibrodysplasia Ossificans Progressiva (FOP). | Peripheral Blood (EDTA Whole Blood) | 3–4 Weeks | 2,800.00 AED | Details |
| ACY1 Gene Aminoacylase Deficiency Genetic Test TEST-5985 LOINC 82301-8 | This genetic test evaluates for pathogenic mutations within the ACY1 gene associated with aminoacylase deficiency. | Peripheral whole blood (EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| ADAMTSL4 Gene Ectopia Lentis (Isolated, Autosomal Recessive) Genetic Test TEST-3613 LOINC 76751-6 | This diagnostic test evaluates the ADAMTSL4 gene for pathogenic variants associated with isolated autosomal recessive ectopia lentis. | Whole Blood (Peripheral Venipuncture) | 3 – 4 Weeks | 2,800.00 AED | Details |
| ADAT3 Gene Intellectual Disability (Autosomal Recessive Type 36) Genetic Test TEST-4866 LOINC 82939-0 | This genetic test identifies pathogenic variants in the ADAT3 gene, which are responsible for causing autosomal recessive intellectual disability type... | Peripheral whole blood (EDTA tube) | 3–4 weeks (21–28 calendar days) | 2,800.00 AED | Details |
| AGPS Gene Rhizomelic Chondrodysplasia Punctata Type 3 (RCDP3) Genetic Test TEST-2386 LOINC 48767-8 | This genetic test evaluates the AGPS gene for pathogenic variants associated with Rhizomelic Chondrodysplasia Punctata Type 3 (RCDP3). | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| AGT Gene Renal Tubular Dysgenesis Genetic Test TEST-3487 LOINC 21636-6 | This test identifies pathogenic variants in the AGT gene associated with autosomal recessive renal tubular dysgenesis. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| AHCY Gene Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency Genetic Test TEST-2734 LOINC 94222-5 | This genetic test identifies pathogenic variants within the AHCY gene, confirming or ruling out S-adenosylhomocysteine hydrolase deficiency. | Whole Blood (EDTA) or DNA FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| AKT2 Gene Hypoinsulinemic Hypoglycemia with Hemihypertrophy Genetic Test TEST-6180 LOINC 81231-4 | This test evaluates the AKT2 gene for pathogenic variants associated with hypoinsulinemic hypoglycemia and hemihypertrophy. | Peripheral whole blood (EDTA tube, 1–3 mL) | 3–4 Weeks | 2,800.00 AED | Details |
| ALAS2 Gene Anemia, Sideroblastic, X-Linked Genetic Test TEST-3323 LOINC 81321-9 | This test identifies pathogenic variants in the ALAS2 gene, confirming a diagnosis of X-linked sideroblastic anemia. | Peripheral whole blood (2–5 mL EDTA) | 3–4 weeks | 2,800.00 AED | Details |
| ALDH18A1 Gene (Cutis Laxa Type 3A, Autosomal Recessive) Genetic Test TEST-5271 LOINC 21639-0 | This genetic test evaluates the ALDH18A1 gene for mutations associated with autosomal recessive cutis laxa type 3A (ARCL3A). It identifies disease-cau... | Whole Blood (Peripheral Venous) | 3–4 Weeks | 2,800.00 AED | Details |
| ALG1 Gene Glycosylation Disorder Type 1K Genetic Test TEST-6361 LOINC 50398-0 | This test detects pathogenic variants in the ALG1 gene associated with Congenital Disorder of Glycosylation Type Ik (CDG-Ik). | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| ALPL Gene Odontohypophosphatasia Genetic Test TEST-5965 LOINC 94831-8 | This test analyzes the entire ALPL gene to identify mutations causing Odontohypophosphatasia. | Whole blood, FTA card, or extracted genomic DNA | 3–4 weeks | 2,800.00 AED | Details |
| AMER1 Gene Osteopathia Striata with Cranial Sclerosis Genetic Test TEST-4683 LOINC 94531-1 | This genetic test evaluates the AMER1 gene for pathogenic variants associated with Osteopathia Striata with Cranial Sclerosis. | Whole Blood (EDTA), Extracted DNA, FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| ANK3 Gene Mental Retardation, Autosomal Recessive Type 37 (MRT37) Genetic Test TEST-4973 LOINC 93928-2 | This genetic test identifies pathogenic variants within the ANK3 gene associated with autosomal recessive intellectual disability type 37 (MRT37). | Whole Blood (3-5 mL EDTA), Extracted DNA, or FTA Card | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| ANKRD11 Gene Genetic Test for KBG Syndrome TEST-2686 LOINC 81263-6 | This test evaluates the ANKRD11 gene for pathogenic variants associated with KBG syndrome. | Peripheral whole blood (EDTA) | 3–4 weeks | 2,800.00 AED | Details |
| AP4S1 Gene (SPG52) Genetic Test TEST-5777 LOINC 93437-5 | This test analyzes the AP4S1 gene to detect pathogenic variants associated with Hereditary Spastic Paraplegia Type 52 (SPG52). | Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot | 3-4 Weeks | 2,800.00 AED | Details |
| AP5Z1 Gene SPG48 Genetic Test TEST-5770 LOINC 82675-3 | This test sequences the AP5Z1 gene using NGS to detect mutations causing hereditary spastic paraplegia type 48 (SPG48). It identifies single-nucleotid... | Peripheral Whole Blood (3–5 mL EDTA) or FTA Card Finger-Prick | 3 to 4 Weeks | 2,800.00 AED | Details |
| APC2-Related Neurodevelopmental Disorder Genetic Test TEST-5415 LOINC 74092-0 | This test detects pathogenic variants in the APC2 gene associated with neurodevelopmental delays and intellectual disability. | Peripheral whole blood (EDTA) or Dried Blood Spot (FTA card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| ARHGAP31 Gene Adams-Oliver Syndrome Type 1 Genetic Test TEST-5487 LOINC 82371-6 | This test evaluates the ARHGAP31 gene for mutations associated with Adams-Oliver syndrome type 1. | Peripheral Whole Blood or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| ASCL1 Gene Central Hypoventilation Syndrome (Congenital) Genetic Test TEST-3994 LOINC 94219-7 | This test identifies pathogenic variants in the ASCL1 gene associated with Congenital Central Hypoventilation Syndrome (CCHS). It uses Next-Generation... | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot | 21–28 Days | 2,800.00 AED | Details |
| ATIC Gene AICA-Ribosiduria due to ATIC Deficiency Genetic Test TEST-6072 LOINC 81247-9 | This genetic test identifies pathogenic variants in the ATIC gene associated with AICA-ribosiduria, an autosomal recessive disorder of purine metaboli... | Whole Blood (EDTA) or FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| ATP2A2 Gene Genetic Test for Acrokeratosis Verruciformis (Darier Disease) TEST-5438 LOINC 94222-8 | This genetic test identifies mutations in the ATP2A2 gene associated with Darier disease (acrokeratosis verruciformis). | Whole blood (EDTA), dried blood spot on FTA card, or extracted genomic DNA | 3–4 weeks | 2,800.00 AED | Details |
| ATP6V0A2 Gene Wrinkly Skin Syndrome Genetic Test TEST-4465 LOINC 21665-9 | This genetic test analyzes the ATP6V0A2 gene to identify pathogenic variants associated with wrinkly skin syndrome. | Blood, DNA FTA Card, Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| ATP6V1B1 Gene Renal Tubular Acidosis with Deafness Genetic Test TEST-3536 LOINC 21636-6 | This test identifies pathogenic variants in the ATP6V1B1 gene associated with distal renal tubular acidosis and sensorineural deafness. | Whole blood (EDTA) or buccal swab | 3–4 Weeks | 2,800.00 AED | Details |
| ATP7A Gene Occipital Horn Syndrome Genetic Test TEST-5395 LOINC 81247-8 | This test identifies pathogenic variants in the ATP7A gene associated with Occipital Horn Syndrome (OHS). | Peripheral Blood (EDTA), Extracted DNA, FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| ATRX Gene Alpha-Thalassemia/Mental Retardation Syndrome Genetic Test TEST-3759 LOINC 81663-8 | This test evaluates the ATRX gene for pathogenic variants associated with Alpha-Thalassemia/Mental Retardation Syndrome (ATR-X). It uses Next-Generati... | Whole Blood (EDTA) or Saliva (Oragene) | 3–4 Weeks | 2,800.00 AED | Details |
| AVP Gene (Arginine Vasopressin) Neurohypophyseal Diabetes Insipidus Genetic Test (NGS) TEST-6317 LOINC 89283-2 | This test evaluates the AVP gene for mutations causing inherited neurohypophyseal diabetes insipidus. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| B4GALNT1 Gene SPG26 Genetic Test TEST-5739 LOINC 48018-6 | This test evaluates the entire B4GALNT1 gene for pathogenic variants associated with Hereditary Spastic Paraplegia Type 26 (SPG26). | Peripheral whole blood (3–5 mL in EDTA tube) | 3–4 weeks | 2,800.00 AED | Details |
| B9D2 Gene Meckel Syndrome Type 10 Next-Generation Sequencing (NGS) Genetic Test TEST-3691 LOINC 92822-6 | This test identifies pathogenic variants in the B9D2 gene associated with Meckel syndrome type 10. | Whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| BBS4 Gene Bardet-Biedl Syndrome Type 4 Genetic Test TEST-3947 LOINC 92810-9 | This test identifies pathogenic variants in the BBS4 gene, confirming Bardet-Biedl syndrome type 4. | Whole Blood or Buccal Swab | 3 to 4 Weeks | 2,800.00 AED | Details |
| BCS1L Gene Leigh Syndrome Genetic Test TEST-4704 LOINC 88312-2 | This genetic test identifies pathogenic variants within the BCS1L gene associated with Leigh syndrome. | Whole Blood, Extracted DNA, or FTA Card | 3 to 4 weeks | 2,800.00 AED | Details |
| BRAF Gene Noonan Syndrome Type 7 Genetic Test (NGS) TEST-2486 LOINC 79328-3 | This test identifies pathogenic variants in the BRAF gene associated with Noonan syndrome type 7. | Blood, Extracted DNA, FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| BRWD3 Gene X-Linked Intellectual Disability Type 93 Genetic Test TEST-4953 LOINC 101357-0 | This test identifies pathogenic variants within the BRWD3 gene associated with X-linked intellectual disability type 93. | Whole blood (peripheral) | 3–4 weeks | 2,800.00 AED | Details |
| C12ORF65 Gene Combined Oxidative Phosphorylation Deficiency Type 7 Genetic Test TEST-6169 LOINC 94828-4 | This genetic test detects pathogenic variants in the C12ORF65 gene, confirming a diagnosis of Combined Oxidative Phosphorylation Deficiency Type 7. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| CA12 Gene Hyperchlorhidrosis, Isolated Genetic Test TEST-6209 LOINC 48000-0 | This test evaluates the entire coding region of the CA12 gene for variants associated with isolated hyperchlorhidrosis. | Whole Blood (PBMC) or Dried Blood Spot on FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| CA2 Gene Osteopetrosis (Autosomal Recessive Type 3) Genetic Test TEST-4694 LOINC 55132-0 | This test identifies mutations in the CA2 gene associated with autosomal recessive osteopetrosis type 3. | Whole blood, extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| CA8 Gene Test for Cerebellar Ataxia & Mental Retardation (CAMRQ3) TEST-4012 LOINC 83006-7 | This genetic test identifies mutations in the CA8 gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 (CAMRQ3).... | Whole blood (EDTA), extracted DNA, or dry blood spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| CASP8 Gene Autoimmune Lymphoproliferative Syndrome Type 2B Genetic Test TEST-5331 LOINC 88151-2 | This test identifies pathogenic variants in the CASP8 gene associated with Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS-2B). | Peripheral whole blood (EDTA) | 3–4 Weeks (expedited 2‑week option available) | 2,800.00 AED | Details |
| CATSPER2 Gene (Deafness & Male Infertility) Genetic Test TEST-5725 LOINC 81247-9 | This test evaluates the CATSPER2 gene for pathogenic variants associated with autosomal recessive syndromic hearing loss and male sterility. | Peripheral Whole Blood or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| CATSPER2 Gene (Deafness & Male Infertility) NGS Test TEST-3424 LOINC 94490-1 | This diagnostic test evaluates the entire coding region and splice sites of the CATSPER2 gene for pathogenic variants linked to deafness and male infe... | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 21–28 Business Days | 2,800.00 AED | Details |
| CBL Gene Juvenile Myelomonocytic Leukemia (JMML) Genetic Test TEST-2059 LOINC 60348-4 | This test identifies germline mutations in the CBL gene associated with an increased risk of developing Juvenile Myelomonocytic Leukemia (JMML). | Whole blood, extracted DNA, or FTA card | 3 to 4 weeks | 2,800.00 AED | Details |
| CDH3 Gene Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Genetic Test TEST-5224 LOINC 21665-2 | This genetic test analyzes the CDH3 gene to detect mutations associated with Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy (EEM) syndrome. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| CDK5RAP2 Gene Microcephaly, Autosomal Recessive Type 3 Genetic Test TEST-2562 LOINC 94222-8 | This test detects pathogenic variants in the CDK5RAP2 gene associated with autosomal recessive primary microcephaly type 3 (MCPH3). | Peripheral Blood or Buccal Swab | 3 to 4 Weeks | 2,800.00 AED | Details |
| CDK6 Gene Microcephaly, Autosomal Recessive Type 12 Genetic Test TEST-2567 LOINC 21636-5 | This test identifies pathogenic mutations in the CDK6 gene associated with autosomal recessive primary microcephaly type 12. | Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| CDON Gene Holoprosencephaly Type 11 (HPE11) Genetic Test TEST-2750 LOINC 94800-0 | This genetic test evaluates the CDON gene for pathogenic variants associated with Holoprosencephaly type 11 (HPE11). | Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| CDSN Gene Hypotrichosis Type 2 Genetic Test TEST-5010 LOINC 92039-4 | This test detects pathogenic variants in the CDSN gene associated with autosomal recessive hypotrichosis type 2. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| CFC1 Gene Heterotaxy, Visceral Type 2 Genetic Test TEST-2781 LOINC 48000-4 | This test evaluates the CFC1 gene for pathogenic variants associated with Heterotaxy, visceral type 2 (HTX2). | Whole Blood or FTA Card | 3-4 Weeks | 2,800.00 AED | Details |
| CHD7 Gene CHARGE Syndrome Genetic Test TEST-2973 LOINC 96369-9 | This test evaluates the CHD7 gene for pathogenic variants associated with CHARGE syndrome. | Buccal Swab or Peripheral Blood | 3–4 Weeks | 2,800.00 AED | Details |
| CHRNG Gene Pterygium Syndrome Genetic Test TEST-4606 LOINC 86214-6 | This test analyzes the CHRNG gene to identify pathogenic variants associated with multiple pterygium syndrome. | Whole Blood, FTA card, or extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| CIC Gene Intellectual Disability Nonsyndromic, CIC‑Related Genetic Test TEST-4559 LOINC 94048-7 | This test identifies pathogenic variants in the CIC gene, which are associated with nonsyndromic intellectual disability. | Whole blood (EDTA tube), extracted DNA, or FTA card blood spot | 3 – 4 weeks | 2,800.00 AED | Details |
| CLCN2 Gene Epilepsy (Idiopathic Generalized Type 11) Test TEST-4360 LOINC 81321-5 | This genetic test evaluates the CLCN2 gene for pathogenic variants associated with Idiopathic Generalized Epilepsy Type 11 (IGE11). | Peripheral Whole Blood | 3–4 weeks | 2,800.00 AED | Details |
| CLCN5 Gene Hypophosphatemic Rickets Genetic Test TEST-3748 LOINC 94086-1 | This genetic test identifies pathogenic variants in the CLCN5 gene associated with Dent disease and X-linked hypophosphatemic rickets. | Whole Blood, Cheek Swab (Buccal), or Dried Blood Spot (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| CLDN1 Gene (Ichthyosis, Leukocyte Vacuoles, Alopecia, Sclerosing Cholangitis) Genetic Test TEST-4968 LOINC 48000-5 | This genetic test detects pathogenic variants in the CLDN1 gene associated with the rare ILVASC syndrome. | Whole Blood, FTA Card, or Extracted DNA (Peripheral Blood) | 3–4 weeks | 2,800.00 AED | Details |
| CLIC2 Gene X-Linked Intellectual Disability Type 32 Genetic Test (NGS) TEST-4922 LOINC 51966-0 | This genetic test identifies pathogenic variants in the CLIC2 gene associated with X-linked intellectual disability type 32. | Peripheral Whole Blood or Dried Blood Spot (FTA Card) | 3 to 4 weeks | 2,800.00 AED | Details |
| CLN6 Gene Analysis for Family Members Test TEST-444 LOINC 21647-9 | This test detects pathogenic variants in the CLN6 gene, identifying carriers and individuals at risk for neuronal ceroid lipofuscinosis type 6. | Peripheral whole blood (venous blood) | 12–15 business days | 2,000.00 AED | Details |
| COA5 Gene Genetic Test for Fatal Infantile Cardioencephalomyopathy (COX Deficiency Type 3) TEST-4385 LOINC 30373-6 | This genetic test identifies pathogenic variants in the COA5 gene, confirming a diagnosis of fatal infantile cardioencephalomyopathy (COX Deficiency T... | Whole Blood (EDTA) or FTA Card Dried Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| COG4 Gene Glycosylation Disorder Type 2J Genetic Test TEST-6332 LOINC 81265-2 | This test identifies pathogenic variants in the COG4 gene, confirming a diagnosis of Congenital Disorder of Glycosylation Type 2J. | Whole Blood, Extracted DNA, or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| COG8 Gene Sequencing (CDG Type 2H) Test TEST-4478 LOINC 21665-9 | This test evaluates the COG8 gene for pathogenic variants associated with congenital disorder of glycosylation type 2H. | Whole Blood (Peripheral) | 3 – 4 weeks | 2,800.00 AED | Details |
| COL2A1 Gene Legg‑Calve‑Perthes Disease Genetic Test TEST-4832 LOINC 54047-4 | This genetic test evaluates the COL2A1 gene for pathogenic variants associated with Legg-Calve-Perthes disease. | Peripheral whole blood | 3-4 weeks | 2,800.00 AED | Details |
| COL2A1 Gene Primary Avascular Necrosis of Femoral Head Genetic Test TEST-5324 LOINC 82939-4 | This genetic test identifies mutations within the COL2A1 gene, which are known causes of primary avascular necrosis of the femoral head. | Whole Blood, Extracted DNA, FTA Card (one drop) | 3 to 4 Weeks | 2,800.00 AED | Details |
| COL4A5 Gene Alport Syndrome, X-Linked Genetic Test TEST-3971 LOINC 94222-5 | This genetic test identifies mutations in the COL4A5 gene associated with X-linked Alport syndrome. | Peripheral Whole Blood, Extracted DNA, or FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| COL9A3 Gene Epiphyseal Dysplasia, Multiple, Type 3 Genetic Test TEST-5093 LOINC 49842-2 | This genetic test analyzes the COL9A3 gene for pathogenic variants associated with Multiple Epiphyseal Dysplasia Type 3. | Peripheral whole blood or FTA card | 3 to 4 weeks | 2,800.00 AED | Details |
| COQ4 Gene Coenzyme Q10 Deficiency Type 7 Genetic Test TEST-6217 LOINC 81247-9 | This test identifies pathogenic mutations in the COQ4 gene, confirming a diagnosis of Coenzyme Q10 Deficiency Type 7. | Peripheral Whole Blood or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| CPLANE1 Gene Orofaciodigital Syndrome Type 6 (OFD6) Genetic Test TEST-2474 LOINC 101397-8 | This genetic test identifies pathogenic variants within the CPLANE1 gene associated with Orofaciodigital Syndrome Type 6. | Peripheral Whole Blood (3–5 mL in EDTA tube); also accepted: extracted genomic DNA or FTA card spot | 3–4 Weeks | 2,800.00 AED | Details |
| CRB2 Gene (Ventriculomegaly–Cystic Kidney Disease) Genetic Test TEST-3454 LOINC 81247-9 | This test identifies pathogenic variants in the CRB2 gene associated with ventriculomegaly–cystic kidney disease syndrome. | Peripheral whole blood (3–5 mL in EDTA tube) or extracted genomic DNA | 3–4 Weeks | 2,800.00 AED | Details |
| CRB2 Gene Focal Segmental Glomerulosclerosis Type 9 Genetic Test TEST-3851 LOINC 101381-1 | This test identifies pathogenic variants in the CRB2 gene associated with steroid-resistant nephrotic syndrome (FSGS type 9). It aids in diagnosis, pr... | Whole blood (EDTA), extracted DNA, or FTA card blood spot | 3–4 weeks | 2,800.00 AED | Details |
| CRYAA Gene (Autosomal Recessive Congenital Cataract Type 1) Genetic Test TEST-3543 LOINC 81126-0 | This test identifies pathogenic variants in the CRYAA gene associated with autosomal recessive congenital cataract type 1. | Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| CSF3R Gene Hereditary Neutrophilia Genetic Test TEST-3196 LOINC 94362-4 | This test evaluates the CSF3R gene for germline mutations associated with hereditary neutrophilia. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| CUL3 Gene Pseudohypoaldosteronism Type 2E Genetic Test TEST-3969 LOINC 90270-6 | This test analyzes the CUL3 gene to identify pathogenic variants associated with Pseudohypoaldosteronism Type 2E (Gordon syndrome). It confirms or exc... | Peripheral Whole Blood (EDTA Tube) | 3–4 Weeks (21–28 Business Days) | 2,800.00 AED | Details |
| CYBB Gene Immunodeficiency Type 34 Genetic Test TEST-4893 LOINC 70040-8 | This test detects pathogenic variants in the CYBB gene associated with X-linked chronic granulomatous disease (CGD). | Peripheral Whole Blood | 3 – 4 Weeks | 2,800.00 AED | Details |
| CYLD Gene Familial Cylindromatosis Genetic Test TEST-2100 LOINC 21636-6 | This genetic test identifies pathogenic variants in the CYLD gene associated with familial cylindromatosis. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| CYP24A1 Gene Hypercalcemia Infantile Type Genetic Test TEST-6271 LOINC 94868-5 | This test identifies genetic variants in the CYP24A1 gene associated with infantile hypercalcemia. | Peripheral whole blood | 3 to 4 Weeks from sample receipt | 2,800.00 AED | Details |
| CYP27B1 Gene Test for Vitamin D-Dependent Rickets Type 1 (Genetic) TEST-4596 LOINC 91851-1 | This test evaluates the CYP27B1 gene for mutations associated with Vitamin D-Dependent Rickets Type 1. | Whole Blood, Extracted DNA, or Finger-Prick Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| DCX Gene Lissencephaly, X-linked Type 1 Genetic Test TEST-2631 LOINC 81247-9 | This test identifies pathogenic variants in the DCX gene, the definitive cause of classic lissencephaly and subcortical band heterotopia. | Whole blood (EDTA) or DNA FTA card | 3–4 weeks | 2,800.00 AED | Details |
| DDX11‑Related Warsaw Breakage Syndrome Genetic Test TEST-2187 LOINC 95451-2 | This genetic test evaluates the DDX11 gene for pathogenic variants associated with Warsaw breakage syndrome. | Whole blood, extracted DNA, or dried blood spot on FTA card | 3 to 4 Weeks | 2,800.00 AED | Details |
| DHCR24 Gene Desmosterolosis Sequencing Test TEST-2879 LOINC 101440-4 | This test detects pathogenic variants in the DHCR24 gene to confirm a diagnosis of desmosterolosis. | Whole blood (EDTA), Dried blood spot (FTA card), or Extracted DNA | 3 – 4 weeks | 2,800.00 AED | Details |
| DNAI2 Gene Primary Ciliary Dyskinesia Type 9 Genetic Test TEST-5534 LOINC 21656-2 | This test identifies pathogenic variants in the DNAI2 gene associated with primary ciliary dyskinesia type 9. | Whole Blood (FTA Card or EDTA tube) | 3–4 weeks | 2,800.00 AED | Details |
| DNM1 Gene Early Infantile Epileptic Encephalopathy Type 31 NGS Test TEST-4321 LOINC 21636-6 | This test identifies pathogenic variants in the DNM1 gene associated with Early Infantile Epileptic Encephalopathy Type 31. | Peripheral whole blood (EDTA) or dried blood spot on FTA card | 3–4 weeks | 2,800.00 AED | Details |
| DNM1L Gene Encephalopathy, Lethal, Due to Defective Mitochondrial and Peroxisomal Fission Test TEST-4307 LOINC 92860-6 | This genetic test detects pathogenic variants in the DNM1L gene associated with a severe, often lethal, neonatal encephalopathy. | Whole Blood (EDTA), Extracted DNA, or One Drop of Blood on FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| DPM1 Gene Glycosylation Disorder Type 1E Genetic Test TEST-4537 LOINC 21636-6 | This genetic test identifies pathogenic variants in the DPM1 gene associated with Congenital Disorder of Glycosylation Type 1E (CDG-1E). | Whole Blood (venous), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| DPM3 Gene CDG Type 1O (NGS) Genetic Test TEST-6353 LOINC 81267-0 | This test analyzes the DPM3 gene for mutations associated with Congenital Disorder of Glycosylation Type 1O. | Whole blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| DSG1 Gene Sequencing Test for Keratosis Palmoplantaris Striata Type 1 TEST-4856 LOINC 21636-6 | This diagnostic test evaluates the DSG1 gene for pathogenic variants associated with striate palmoplantar keratoderma type 1 (SPPK1). | Peripheral whole blood, serum, plasma, or FTA card (dried blood spot) | 3 to 4 weeks | 2,800.00 AED | Details |
| EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 Genetic Test TEST-6133 LOINC 90263-4 | This genetic test evaluates the EARS2 gene for mutations associated with combined oxidative phosphorylation deficiency type 12, a rare mitochondrial d... | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 3-4 Weeks | 2,800.00 AED | Details |
| EDARADD Gene Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Genetic Test TEST-5179 LOINC 101174-7 | This test evaluates the EDARADD gene for pathogenic variants associated with hypohidrotic ectodermal dysplasia (HED). It uses Next-Generation Sequenci... | Whole Blood (EDTA), FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| EIF2AK4 Gene Pulmonary Veno-Occlusive Disease Type 2 Genetic Test TEST-4153 LOINC 81321-9 | This test identifies pathogenic variants in the EIF2AK4 gene associated with hereditary pulmonary veno-occlusive disease type 2. | Peripheral whole blood (EDTA tube) | 3–4 weeks | 2,800.00 AED | Details |
| ELK1 Gene Mental Retardation Non-Syndromic Genetic Test TEST-4875 LOINC 81247-7 | This test identifies pathogenic variants in the ELK1 gene associated with non-syndromic intellectual disability. | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| ENPP1 Gene Hypophosphatemic Rickets, Autosomal Recessive Type 2 Genetic Test TEST-5000 LOINC 55233-1 | This test identifies biallelic pathogenic variants in the ENPP1 gene associated with autosomal recessive hypophosphatemic rickets type 2. | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| ERCC4 Gene Genetic Test for XFE Progeroid Syndrome TEST-4451 LOINC 21679-7 | This test identifies pathogenic variants in the ERCC4 gene associated with XFE progeroid syndrome. | Peripheral whole blood or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| ERLIN1 Gene (SPG62) Test TEST-5697 LOINC 48018-6 | This test identifies mutations in the ERLIN1 gene associated with autosomal recessive hereditary spastic paraplegia type SPG62. | Whole Blood (EDTA) – Peripheral Blood | 3 to 4 Weeks (21–28 business days) | 2,800.00 AED | Details |
| ETFA Gene (Multiple Acyl‑CoA Dehydrogenase Deficiency) Genetic Test TEST-6055 LOINC 94222-0 | This genetic test evaluates the ETFA gene for mutations associated with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD). | Peripheral Whole Blood (EDTA) or Saliva (Oragene® DNA Kit) | 21–28 Days | 2,800.00 AED | Details |
| EXOC8 Gene Joubert Syndrome Genetic Test TEST-4605 LOINC 31208-2 | This test identifies pathogenic variants in the EXOC8 gene associated with Joubert syndrome. | Whole blood (3–5 mL EDTA) or FTA card (dried blood spot) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| EXT1 Gene (Langer‑Giedion Syndrome) Genetic Test TEST-2656 LOINC 101423-6 | This test identifies pathogenic variants, including point mutations, small insertions/deletions, and large deletions, within the EXT1 gene. | Whole blood, extracted genomic DNA, or dried blood spot (FTA card) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| EXT2 Gene Sequencing (Seizures, Scoliosis, Macrocephaly Syndrome) NGS Test TEST-2332 LOINC 93835-9 | This test identifies pathogenic variants within the EXT2 gene associated with seizures, scoliosis, and macrocephaly syndrome. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| EYA1 Gene Otofaciocervical Syndrome Genetic Test TEST-2471 LOINC 77642-5 | This genetic test analyzes the EYA1 gene for mutations associated with otofaciocervical syndrome. | Peripheral Blood, Extracted DNA, or FTA Card Sample | 3–4 Weeks | 2,800.00 AED | Details |
| FAM111A Gene Gracile Bone Dysplasia Genetic Test TEST-5085 LOINC 94474-1 | This test identifies pathogenic variants in the FAM111A gene to confirm a diagnosis of gracile bone dysplasia. | Peripheral Whole Blood | 3–4 weeks | 2,800.00 AED | Details |
| FAM111A Gene Test for Kenny‑Caffey Syndrome Type 2 (NGS) TEST-4696 LOINC 81304-3 | This diagnostic test evaluates the FAM111A gene for pathogenic variants associated with Kenny‑Caffey syndrome type 2. | Whole Blood / FTA Card / Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| FAM83H Gene Amelogenesis Imperfecta, Type III, Genetic Test TEST-5393 LOINC 96533-1 | This test identifies pathogenic variants in the FAM83H gene associated with Amelogenesis Imperfecta Type III. | Peripheral Whole Blood (EDTA Tube) or FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| FAT4 Gene Hennekam Lymphangiectasia‑Lymphedema Syndrome Type 2 Genetic Test TEST-2787 LOINC 21636-6 | This test identifies pathogenic variants in the FAT4 gene associated with Hennekam lymphangiectasia‑lymphedema syndrome type 2. | Whole Blood, Extracted DNA, or One Drop Blood on FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| FGF8 Gene Genetic Test for Hypogonadotropic Hypogonadism Type 6 (with or without Anosmia) TEST-3445 LOINC 100339-6 | This test evaluates the FGF8 gene for mutations associated with congenital hypogonadotropic hypogonadism type 6. | Whole Blood, Extracted DNA, or FTA Card | 3-4 Weeks | 2,800.00 AED | Details |
| FGFR1 Gene Hartsfield Syndrome Genetic Test TEST-2800 LOINC 82927-8 | This test identifies pathogenic mutations within the FGFR1 gene associated with Hartsfield syndrome. | Peripheral whole blood (1 mL) | 3 – 4 weeks | 2,800.00 AED | Details |
| FGFR2 Gene Bent Bone Dysplasia Syndrome Genetic Test TEST-5355 LOINC 93296-0 | This test evaluates the FGFR2 gene for mutations associated with Bent Bone Dysplasia Syndrome using Next-Generation Sequencing. | Peripheral whole blood | 3 – 4 weeks | 2,800.00 AED | Details |
| FGFR2 Gene LADD Syndrome Next-Generation Sequencing Genetic Test TEST-2668 LOINC 21663-3 | This diagnostic test evaluates the FGFR2 gene for pathogenic variants associated with Lacrimo-Auriculo-Dento-Digital (LADD) syndrome. | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss Genetic Test TEST-5151 LOINC 101554-3 | This genetic test identifies mutations in the FKBP14 gene associated with Ehlers-Danlos syndrome characterized by progressive kyphoscoliosis, myopathy... | Whole Blood (EDTA) or FTA Card Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| FLCN Gene (Birt‑Hogg‑Dubé Syndrome) Genetic Test TEST-3059 LOINC 81304-3 | This genetic test identifies mutations in the FLCN gene associated with Birt‑Hogg‑Dubé syndrome. | Whole Blood, Extracted DNA, or FTA Card (Dried Blood Spot) | 3 to 4 Weeks | 2,800.00 AED | Details |
| FLCN Gene Primary Spontaneous Pneumothorax Genetic Test TEST-5536 LOINC 87836-3 | This genetic test evaluates the FLCN gene for mutations associated with Birt-Hogg-Dubé syndrome, a condition predisposing individuals to primary spont... | Whole blood, extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| FLNB Gene Spondylocarpotarsal Synostosis Syndrome Genetic Test TEST-4568 LOINC 21658-4 | This test analyzes the FLNB gene for mutations associated with spondylocarpotarsal synostosis syndrome. | Whole Blood (EDTA), DNA FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| FLNC Gene Filaminopathy Genetic Test TEST-4419 LOINC 78014-3 | This test evaluates the FLNC gene for variants associated with filaminopathy, a condition causing muscle weakness and heart problems. | Peripheral Whole Blood | 3 – 4 Weeks | 2,800.00 AED | Details |
| FLVCR2 Gene Hydranencephaly, Fowler Type Genetic Test TEST-2735 LOINC 81724-7 | This test analyzes the FLVCR2 gene for pathogenic variants associated with Fowler-type hydranencephaly. | Peripheral whole blood, extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| FOXC2 Gene Lymphedema-Distichiasis Syndrome Genetic Test TEST-2632 LOINC 90362-5 | This test identifies pathogenic variants in the FOXC2 gene associated with lymphedema-distichiasis syndrome. | Whole blood (EDTA) or FTA card | 3 to 4 weeks | 2,800.00 AED | Details |
| FOXI1 Gene Deafness (Autosomal Recessive Type 4) Genetic Test TEST-5628 LOINC 21636-8 | This test detects pathogenic variants in the FOXI1 gene associated with autosomal recessive nonsyndromic deafness type 4 (DFNB4). | Whole Blood (EDTA), Extracted Genomic DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| FREM2 Gene (Fraser Syndrome) Genetic Test TEST-2832 LOINC 83325-4 | This test evaluates the FREM2 gene for pathogenic variants associated with Fraser syndrome. | Whole blood (3–5 mL in EDTA tube), extracted DNA, or dried blood spot | 3–4 weeks | 2,800.00 AED | Details |
| GATA1 Gene Sequencing for X-Linked Thrombocytopenia with Beta-Thalassemia Test TEST-3169 LOINC 82994-6 | This diagnostic test evaluates the GATA1 gene for mutations associated with X-linked thrombocytopenia with beta-thalassemia. | Peripheral whole blood (standard venipuncture or FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| GATA1 Gene Thrombocytopenia, X-Linked Genetic Test TEST-3130 LOINC 94497-8 | This test identifies pathogenic variants in the GATA1 gene associated with X-linked thrombocytopenia. | Peripheral Whole Blood, Buccal Swab, or FTA Card | 3 to 4 weeks | 2,800.00 AED | Details |
| GATA4 Gene Testicular Anomalies with or without Congenital Heart Disease Genetic Test TEST-3367 LOINC 93935-6 | This test evaluates the GATA4 gene for pathogenic variants linked to congenital heart defects and testicular anomalies. | Whole Blood / Peripheral Blood | 21–28 working days | 2,800.00 AED | Details |
| GCDH Gene Glutaric Acidemia Type 1 Genetic Test TEST-6394 LOINC 86586-2 | This test identifies pathogenic variants in the GCDH gene to confirm a diagnosis of Glutaric Acidemia Type 1 (GA1). | Whole Blood, Extracted DNA, One Drop Blood on FTA Card | 3 to 4 weeks | 2,800.00 AED | Details |
| GCH1 Gene Hyperphenylalaninemia, BH4-Deficient Type B, Genetic Test TEST-4621 LOINC 100363-1 | This genetic test identifies pathogenic variants in the GCH1 gene, confirming a diagnosis of BH4-deficient hyperphenylalaninemia type B. | Peripheral Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| GDF6 Gene Klippel‑Feil Syndrome Type 1 Autosomal Dominant NGS Test TEST-2673 LOINC 96653-6 | This test evaluates the GDF6 gene for pathogenic variants associated with Klippel‑Feil Syndrome Type 1. | Peripheral Blood – EDTA Whole Blood (3–5 mL) | 3–4 weeks | 2,800.00 AED | Details |
| GDI1 Gene X-Linked Intellectual Disability Type 41 Genetic Test TEST-5035 LOINC 81247-3 | This test evaluates the GDI1 gene for pathogenic variants associated with X-linked intellectual disability type 41. | Peripheral Blood or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| GDNF Gene Congenital Central Hypoventilation Syndrome (CCHS) Genetic Test TEST-2993 LOINC 21663-5 | This test identifies genetic mutations in the GDNF gene associated with Congenital Central Hypoventilation Syndrome (CCHS). | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| GFRA1 Gene (Congenital Central Hypoventilation Syndrome) Genetic Test TEST-2999 LOINC 101185-5 | This genetic test analyzes the GFRA1 gene to detect mutations causing Congenital Central Hypoventilation Syndrome (CCHS). It identifies pathogenic var... | Peripheral Whole Blood (3–5 mL in EDTA tube); alternative buccal swab accepted for neonates with prior clinical consultation | 21–28 Business Days | 2,800.00 AED | Details |
| GGCX Gene Analysis: Pseudoxanthoma Elasticum-like Disorder with Multiple Coagulation Factor Deficiency (NGS) Test TEST-4613 LOINC 55233-1 | This diagnostic test uses Next-Generation Sequencing (NGS) to identify pathogenic variants within the GGCX gene. | Whole Blood (EDTA) or Dried Blood Spot on FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| GJA8 Gene Cataract‑Microcornea Syndrome Genetic Test TEST-3540 LOINC 21636-6 | This test evaluates the GJA8 gene for pathogenic variants associated with cataract-microcornea syndrome. | Whole Blood (EDTA), Buccal Swab, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| GJC2 Gene Hypomyelinating Leukodystrophy (Genetic Test) TEST-4675 LOINC 81247-9 | This genetic test identifies pathogenic variants in the GJC2 gene, confirming a diagnosis of hypomyelinating leukodystrophy (Pelizaeus‑Merzbacher‑like... | Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 21–28 days | 2,800.00 AED | Details |
| GMPPA Gene Alacrima, Achalasia, and Mental Retardation Syndrome Genetic Test TEST-3088 LOINC 82498-5 | This test evaluates the GMPPA gene for pathogenic variants associated with Alacrima, Achalasia, and Mental Retardation (AAMR) syndrome. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks (guaranteed from sample receipt) | 2,800.00 AED | Details |
| GNA11 Gene Hypocalcemia, Autosomal Dominant 2 (Genetic Test) TEST-6128 LOINC 91711-5 | This test identifies pathogenic variants in the GNA11 gene associated with autosomal dominant hypocalcemia type 2. | Whole blood (EDTA), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| GNAQ Gene Sequencing Test for Developmental Delay TEST-4207 LOINC 95279-9 | This test evaluates the GNAQ gene for mutations associated with developmental delay and neurodevelopmental disorders using Next-Generation Sequencing... | Peripheral whole blood | 3–4 Weeks | 2,800.00 AED | Details |
| GPD1 Gene Sequencing for Transient Infantile Hypertriglyceridemia Test TEST-3784 LOINC 55233-1 | This test identifies pathogenic variants in the GPD1 gene associated with Transient Infantile Hypertriglyceridemia (HTGTI). | Peripheral whole blood (3–5 mL EDTA) or buccal swab | 3–4 weeks | 2,800.00 AED | Details |
| GPT2 Gene Genetic Test TEST-4880 LOINC 101120-6 | This test detects pathogenic variants in the GPT2 gene associated with Mental Retardation, Autosomal Recessive Type 49 (MRT49). | Peripheral Blood | 3–4 Weeks (Standard) | 2,800.00 AED | Details |
| GSN Gene Finnish Type Amyloidosis Genetic Test TEST-3765 LOINC 94219-7 | This genetic test detects mutations in the GSN gene associated with hereditary gelsolin amyloidosis (Meretoja disease). It helps identify individuals... | Whole blood (EDTA tube), extracted DNA, or dried blood spot on FTA card | 3–4 weeks | 2,800.00 AED | Details |
| GTPBP2 Gene Neurodegeneration with Brain Iron Accumulation Genetic Test TEST-5310 LOINC 55233-1 | This test detects pathogenic variants in the entire coding region of the GTPBP2 gene associated with neurodegeneration with brain iron accumulation (N... | Whole Blood (Peripheral) | 3–4 weeks | 2,800.00 AED | Details |
| HOXA13 Gene Guttmacher Syndrome Genetic Test TEST-2798 LOINC 48007-2 | This genetic test evaluates the HOXA13 gene for pathogenic variants associated with Guttmacher syndrome. | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| HPCA Gene DYT2 Genetic Test TEST-4200 LOINC 92558-8 | This test evaluates the HPCA gene for pathogenic variants associated with autosomal dominant dystonia type 2 (DYT2). | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| HPD Gene Hawkinsinuria Genetic Test TEST-6248 LOINC 81311-6 | This genetic test identifies pathogenic variants in the HPD gene associated with Hawkinsinuria (tyrosinemia type III). It provides a definitive molecu... | Peripheral Whole Blood, Serum, or Plasma (Blood Draw) | 3–4 Weeks | 2,800.00 AED | Details |
| HPGD Gene Hypertrophic Osteoarthropathy Type 1 Genetic Test TEST-5012 LOINC 81247-9 | This test sequences the HPGD gene to identify pathogenic variants associated with Primary Hypertrophic Osteoarthropathy Type 1 (PHOAR1). It confirms o... | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| HPSE2 Gene Urofacial Syndrome Type 1 Genetic Test TEST-2206 LOINC 101886-4 | This test identifies pathogenic variants within the HPSE2 gene associated with Urofacial Syndrome Type 1. | Whole blood (3–5 mL in EDTA tube) or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| HS6ST1 Gene Hypogonadotropic Hypogonadism Type 15 (With/Without Anosmia) Genetic Test TEST-3717 LOINC 82376-6 | This genetic test identifies mutations in the HS6ST1 gene associated with Hypogonadotropic Hypogonadism Type 15, often linked to anosmia. | Peripheral Whole Blood (EDTA) | 3 to 4 Weeks | 2,800.00 AED | Details |
| HSD17B4 Gene Perrault Syndrome Genetic Test TEST-5559 LOINC 83525-9 | This genetic test identifies pathogenic variants in the HSD17B4 gene associated with Perrault syndrome. | Whole Blood (Peripheral), Extracted DNA, or Dried Blood Spot – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection | 3 to 4 Weeks | 2,800.00 AED | Details |
| HSD3B2 Gene 3‑Beta‑Hydroxysteroid Dehydrogenase Deficiency Type 2 Genetic Test TEST-6014 LOINC 81216-7 | This genetic test identifies pathogenic variants in the HSD3B2 gene associated with 3-beta-hydroxysteroid dehydrogenase deficiency type 2. | Peripheral Whole Blood (Venipuncture), Extracted DNA, or FTA Card | 3 to 4 weeks (21–28 business days) | 2,800.00 AED | Details |
| HSD3B7 Gene (Bile Acid Synthesis Defect Type 1, Congenital) Genetic Test TEST-6131 LOINC 81825-0 | This genetic test evaluates the HSD3B7 gene for variants associated with congenital bile acid synthesis defect type 1 (BASD1). It helps confirm the di... | Peripheral Whole Blood, FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| HSPA9 Gene Analysis (Sideroblastic Anemia Type 4) Genetic Test TEST-3327 LOINC 81247-9 | This genetic test identifies pathogenic variants in the HSPA9 gene associated with hereditary sideroblastic anemia type 4. | Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| HSPG2 Gene Schwartz-Jampel Syndrome Type 1 Genetic Test TEST-5582 LOINC 77678-5 | This test identifies pathogenic variants in the HSPG2 gene associated with Schwartz-Jampel syndrome type 1. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| HYLS1 Gene Hydrolethalus Syndrome Genetic Test TEST-2737 LOINC 94039-6 | This genetic test identifies pathogenic variants in the HYLS1 gene associated with hydrolethalus syndrome. | Whole blood (EDTA), extracted DNA, or FTA card | 3 to 4 weeks | 2,800.00 AED | Details |
| IER3IP1 Gene (Microcephaly, Epilepsy, Diabetes Syndrome) Genetic Test TEST-2576 LOINC 92879-1 | This genetic test analyzes the IER3IP1 gene to identify mutations associated with microcephaly, epilepsy, and diabetes syndrome (MEDS). It helps confi... | Whole blood (EDTA tube), extracted DNA, or dried blood spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| IFNGR1 Gene Genetic Test (Atypical Familial Disseminated Mycobacterial Infection) TEST-4769 LOINC 55233-1 | This test evaluates the IFNGR1 gene for pathogenic variants associated with Mendelian Susceptibility to Mycobacterial Disease (MSMD). It identifies mu... | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| IGBP1 Gene Genetic Test for Corpus Callosum Agenesis Syndrome TEST-4099 LOINC 81304-9 | This test evaluates the IGBP1 gene for variants associated with corpus callosum agenesis syndrome. | Blood, DNA FTA Card, Extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| IGF1 Gene NGS Testing for Growth Retardation, Deafness, and Intellectual Disability due to IGF1 Deficiency Test TEST-2802 LOINC 81247-9 | This test identifies pathogenic variants in the IGF1 gene associated with a syndrome of severe growth failure, deafness, and intellectual disability. | Peripheral whole blood (3–5 mL in EDTA tube) or FTA card finger-prick sample | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| IL2RA Gene Interleukin-2 Receptor Deficiency Genetic Test TEST-4871 LOINC 21666-1 | This genetic test identifies pathogenic mutations within the IL2RA gene, which are associated with CD25 deficiency and severe combined immunodeficienc... | Whole Blood (EDTA), Extracted DNA, or FTA Card Bloodspot | 3–4 weeks (21–28 business days) | 2,800.00 AED | Details |
| IL31RA Gene Amyloidosis, Primary Localized Cutaneous, Type 2 Genetic Test TEST-5384 LOINC 81320-4 | This test identifies pathogenic variants in the IL31RA gene associated with Primary Localized Cutaneous Amyloidosis type 2. | Peripheral whole blood or buccal swab | 3–4 weeks | 2,800.00 AED | Details |
| INHBA Gene FSH Releasing Protein Deficiency Genetic Test TEST-3848 LOINC 92822-6 | This test evaluates the INHBA gene for variants associated with FSH releasing protein deficiency, a cause of congenital hypogonadotropic hypogonadism. | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| INPPL1 Gene Opsismodysplasia Genetic Test TEST-4746 LOINC 21636-6 | This test analyzes the INPPL1 gene for mutations associated with Opsismodysplasia, a rare genetic disorder. | Peripheral whole blood (EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| JAM3 Gene Hemorrhagic Brain Destruction, Subependymal Calcification & Cataracts (JAM3) Genetic Test TEST-4005 LOINC 21636-8 | This genetic test identifies pathogenic variants in the JAM3 gene associated with a severe syndrome characterized by brain hemorrhage, calcification,... | Whole Blood (3-5 mL) or FTA Card (Dried Blood Spot) | 3–4 weeks | 2,800.00 AED | Details |
| KCNH1 Gene Temple-Baraitser Syndrome Genetic Test TEST-2246 LOINC 82939-0 | This test evaluates the KCNH1 gene for pathogenic variants associated with Temple-Baraitser syndrome. | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| KCNT1 Gene Epilepsy (Nocturnal Frontal Lobe) Genetic Test TEST-4432 LOINC 92747-3 | This genetic test evaluates the KCNT1 gene for variants associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and related epilep... | Peripheral whole blood, saliva, or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| KDM5C Gene Sequencing (Claes-Jensen Syndrome) DNA Test TEST-4894 LOINC 83934-6 | This test analyzes the KDM5C gene to identify pathogenic variants associated with Claes-Jensen syndrome (X-linked intellectual disability). | Peripheral whole blood (EDTA) or FTA card finger-prick | 3–4 weeks | 2,800.00 AED | Details |
| KEAP1 Gene Goitre, Multinodular Genetic Test TEST-3789 LOINC 101351-3 | This test evaluates the KEAP1 gene for pathogenic germline variants associated with familial nontoxic multinodular goiter (MNG). It identifies genetic... | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| KIF1A Gene (HSN2C) Genetic Test TEST-4594 LOINC 94086-1 | This test identifies pathogenic variants in the KIF1A gene, which are associated with hereditary sensory neuropathy type 2C (HSN2C), hereditary spasti... | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| KIF1B Gene CMT2A1 Next-Generation Sequencing Genetic Test TEST-4008 LOINC 82789-9 | This genetic test identifies pathogenic variants within the KIF1B gene associated with autosomal dominant Charcot-Marie-Tooth disease type 2A1. | Peripheral whole blood (EDTA) | 3–4 weeks | 2,800.00 AED | Details |
| KIF21A Gene Fibrosis of Extraocular Muscles, Congenital Type 1 Genetic Test TEST-3648 LOINC 94122-4 | This test identifies pathogenic variants in the KIF21A gene associated with Congenital Fibrosis of Extraocular Muscles Type 1 (CFEOM1). | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| KMT2C Gene Developmental Delay (Kleefstra Syndrome 2) NGS Test TEST-4160 LOINC 101155-1 | This diagnostic test evaluates the KMT2C gene for pathogenic variants associated with Kleefstra syndrome 2. | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| KRT14 Gene Epidermolysis Bullosa Simplex, Weber-Cockayne Type NGS Test TEST-5156 LOINC 92939-7 | This test evaluates the KRT14 gene for variants associated with Weber-Cockayne type epidermolysis bullosa simplex (EBS-WC). | Peripheral whole blood (EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| KRT14 Gene Naegeli-Franceschetti-Jadassohn Syndrome Genetic Test TEST-4781 LOINC 94761-6 | This genetic test analyzes the KRT14 gene to detect mutations associated with Naegeli-Franceschetti-Jadassohn syndrome (NFJS). | Peripheral Whole Blood (3–5 mL in EDTA tube); alternative buccal swab accepted for paediatric cases | 3–4 Weeks | 2,800.00 AED | Details |
| KRT16 Gene Pachyonychia Congenita Type 1 Genetic Test TEST-4681 LOINC 94477-7 | This genetic test evaluates the KRT16 gene for pathogenic variants associated with Pachyonychia Congenita Type 1. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot | 3–4 weeks | 2,800.00 AED | Details |
| KRT17 Gene Steatocystoma Multiplex Genetic Test TEST-4550 LOINC 21644-0 | This genetic test identifies pathogenic variants in the KRT17 gene associated with steatocystoma multiplex. | Whole Blood (EDTA) or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| KRT71 Gene Hypotrichosis Type 13 Genetic Test TEST-4988 LOINC 21636-6 | This test evaluates the KRT71 gene for pathogenic variants associated with hypotrichosis type 13, a form of hereditary hair loss. | Peripheral whole blood (EDTA tube) or FTA card | 21–28 days | 2,800.00 AED | Details |
| LAMA3 Gene Laryngo-Onycho-Cutaneous Syndrome (LOCS) Genetic Test TEST-4849 LOINC 82319-3 | This test evaluates the LAMA3 gene for pathogenic mutations associated with Laryngo-Onycho-Cutaneous Syndrome (LOCS). It identifies variants linked to... | Peripheral Blood, Extracted DNA, or FTA Card Blood Spot | 3–4 weeks | 2,800.00 AED | Details |
| LAMC3 Gene Cortical Malformations, Occipital Genetic Test TEST-2941 LOINC 62374-4 | This test detects pathogenic variants in the LAMC3 gene associated with occipital cortical malformations. | Peripheral whole blood (EDTA) or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| LARS2 Gene Perrault Syndrome Type 4 Genetic Test TEST-5562 LOINC 93929-0 | This genetic test identifies pathogenic variants in the LARS2 gene associated with Perrault syndrome type 4. | Blood, Extracted DNA, or One-Drop Blood on FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| LDHB Gene (Lactate Dehydrogenase B Deficiency) Genetic Test TEST-6081 LOINC 88247-9 | This genetic test identifies pathogenic variants in the LDHB gene associated with lactate dehydrogenase B deficiency. | Whole blood (peripheral) or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| LMNA Gene Heart-Hand Syndrome (Slovenian Type) Genetic Test TEST-2791 LOINC 21623-6 | This genetic test identifies pathogenic variants within the LMNA gene associated with Heart-Hand syndrome, Slovenian type. | Peripheral Blood Sample | 3–4 Weeks | 2,800.00 AED | Details |
| MAGEL2 Gene Schaaf-Yang Syndrome Genetic Test TEST-2372 LOINC 86388-0 | This test identifies disease-causing mutations in the MAGEL2 gene, confirming Schaaf‑Yang syndrome. | Whole Blood or FTA Card (Peripheral Blood) | 3 to 4 weeks | 2,800.00 AED | Details |
| MAGT1 Gene Mental Retardation, X‑Linked Type 95 (XLMR‑95) Genetic Test TEST-4958 LOINC 94244-2 | This test identifies pathogenic variants in the MAGT1 gene associated with X-linked mental retardation type 95 (XLMR-95). It uses Next-Generation Sequ... | Peripheral Whole Blood or Dried Blood Spot (DBS) Card | 3–4 weeks | 2,800.00 AED | Details |
| MAMLD1 Gene Hypospadias Type 2, X-Linked Genetic Test TEST-2714 LOINC 81247-9 | This test identifies pathogenic variants in the MAMLD1 gene associated with X-linked hypospadias type 2. | Whole blood (EDTA tube) or dried blood spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| MANBA Gene Beta‑Mannosidosis Genetic Test TEST-6044 LOINC 77641-7 | This genetic test analyzes the MANBA gene for mutations associated with beta-mannosidosis. | Whole Blood, Extracted DNA, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| MATN3 Gene Multiple Epiphyseal Dysplasia Type 5 Genetic Test TEST-5127 LOINC 55233-1 | This genetic test identifies pathogenic mutations in the MATN3 gene, confirming a diagnosis of multiple epiphyseal dysplasia type 5. | Whole blood or dried blood spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| MBD5 Gene Mental Retardation, Autosomal Dominant Type 1 Genetic Test TEST-4796 LOINC 21613-7 | This genetic test identifies pathogenic variants in the MBD5 gene, which are associated with autosomal dominant intellectual disability, developmental... | Whole Blood (Peripheral) | 3–4 weeks | 2,800.00 AED | Details |
| MECP2 Gene Analysis (X-Linked Mental Retardation Type 13) NGS Test TEST-4903 LOINC 21679-7 | This test identifies pathogenic variants, including single nucleotide variants, insertions/deletions, and copy number variations, within the MECP2 gen... | Whole blood (EDTA tube), extracted DNA, or FTA card | 3 – 4 Weeks | 2,800.00 AED | Details |
| MECP2 Gene Angelman-Like Syndrome Genetic Test TEST-3814 LOINC 83491-7 | This test identifies pathogenic variants within the MECP2 gene, which are associated with an Angelman syndrome-like phenotype. | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| MED12 Gene FG Syndrome Type 1 Genetic Testing (NGS) Test TEST-4487 LOINC 87422-4 | This test detects pathogenic variants in the MED12 gene associated with FG syndrome type 1 using Next-Generation Sequencing. | Peripheral whole blood (EDTA), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| MED13L Gene Sequencing (NGS) Test TEST-3993 LOINC 93218-8 | This diagnostic test detects pathogenic variants in the MED13L gene linked to dextro‑looped transposition of the great arteries (D‑TGA). | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| MGME1 Gene Mitochondrial DNA Depletion Syndrome Type 11 Genetic Test TEST-5095 LOINC 81200-1 | This test identifies pathogenic variants in the MGME1 gene associated with Mitochondrial DNA Depletion Syndrome Type 11. | Whole Blood (EDTA), Extracted DNA, or One Drop of Blood on FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| MMP9 Gene, Metaphyseal Anadysplasia Type 2, Genetic Test TEST-2582 LOINC 21655-2 | This genetic test identifies pathogenic mutations in the MMP9 gene associated with Metaphyseal Anadysplasia Type 2. | Peripheral Whole Blood, Extracted DNA, or FTA Card Dried Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| MOCOS Gene (Xanthinuria Type 2) Genetic Test TEST-5752 LOINC 101513-5 | This test identifies pathogenic variants in the MOCOS gene, confirming a diagnosis of Xanthinuria Type 2. | Whole Blood, Extracted DNA, or FTA Card (Dried Blood Spot) | 3 to 4 Weeks | 2,800.00 AED | Details |
| MPDU1 Gene Glycosylation Disorder Type 1F Genetic Test TEST-6312 LOINC 95407-5 | This test identifies pathogenic variants in the MPDU1 gene associated with Congenital Disorder of Glycosylation Type If (CDG-If). It provides a defini... | Whole blood (EDTA) or buccal swab | 3 – 4 Weeks | 2,800.00 AED | Details |
| MPLKIP Gene Trichothiodystrophy, Nonphotosensitive Type 1, Genetic Test TEST-4515 LOINC 21636-6 | This genetic test evaluates the MPLKIP gene for pathogenic variants associated with Trichothiodystrophy, nonphotosensitive type 1. | Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 Genetic Test TEST-6166 LOINC 93935-3 | This genetic test identifies pathogenic variants in the MRPS22 gene associated with Combined Oxidative Phosphorylation Deficiency Type 5 (COXPD5). | Whole Blood (EDTA) or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| MSMO1 Gene Microcephaly Genetic Test TEST-2536 LOINC 21636-5 | This test evaluates the MSMO1 gene for pathogenic variants associated with primary microcephaly, congenital cataracts, and intellectual disability. | Peripheral Whole Blood, Extracted DNA, or FTA Card Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| MSX1 Gene Tooth Agenesis, Selective Type 1 Genetic Test TEST-2229 LOINC 21636-6 | This genetic test analyzes the MSX1 gene to identify variants associated with selective tooth agenesis (congenital absence of permanent teeth). It uti... | Whole Blood (Peripheral) or Buccal Swab | 3 to 4 Weeks | 2,800.00 AED | Details |
| MTAP Gene Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma Genetic Test TEST-5212 LOINC 91849-1 | This genetic test evaluates the MTAP gene for pathogenic variants associated with hereditary diaphyseal medullary stenosis and malignant fibrous histi... | Whole Blood (EDTA) / Buccal Swab / Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| MTM1 Gene Myotubular Myopathy X‑Linked Genetic Test TEST-5287 LOINC 56949-5 | This test identifies pathogenic variants in the MTM1 gene to confirm X-linked myotubular myopathy (XLMTM) and identify carriers. | Peripheral Whole Blood or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| MTMR14 Gene Centronuclear Myopathy Type 1 Genetic Test TEST-3998 LOINC 81247-9 | This genetic test detects mutations in the MTMR14 gene associated with autosomal recessive centronuclear myopathy type 1. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| MTR Gene Methylcobalamin Deficiency (CblG Type) Genetic Test TEST-5999 LOINC 65853-3 | This genetic test analyzes the MTR gene to identify pathogenic variants associated with methylcobalamin deficiency (CblG type). It provides a definiti... | Peripheral whole blood (EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| MTRR Gene Spina Bifida Folate-Sensitive Genetic Test TEST-2287 LOINC 81217-1 | This test evaluates the MTRR gene for variants associated with folate-sensitive neural tube defects like spina bifida. | Peripheral whole blood (FTA card or standard venipuncture) | 3–4 Weeks (90% reports in 24 days) | 2,800.00 AED | Details |
| MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4 Genetic Test TEST-2642 LOINC 21633-5 | This test detects pathogenic variants in the MYBPC1 gene associated with Lethal Congenital Contracture Syndrome Type 4 (LCCS4). | Whole Blood, Extracted DNA, or One Drop of Blood on FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| MYCN Gene Feingold Syndrome Genetic Test TEST-2849 LOINC 92850-0 | This test evaluates the MYCN gene for pathogenic variants associated with Feingold syndrome. | Whole Blood (EDTA), Extracted DNA, Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| MYOC (Myocilin) Glaucoma, Open Angle Type 1A Genetic Test TEST-3665 LOINC 21627-6 | This genetic test evaluates the MYOC gene for variants associated with primary open-angle glaucoma type 1A. | Peripheral whole blood (EDTA) or buccal swab | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| NALCN Gene Test TEST-2521 LOINC 21637-3 | This test analyzes the NALCN gene for pathogenic variants associated with infantile neuroaxonal neurodegeneration with facial dysmorphism. | Peripheral whole blood (1–2 ml) or FTA card finger-prick | 3–4 weeks from sample accession | 2,800.00 AED | Details |
| NCF1 Gene Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive Type 1 Test TEST-5052 LOINC 94453-4 | This test identifies pathogenic variants in the NCF1 gene, confirming a diagnosis of autosomal recessive chronic granulomatous disease type 1. | Peripheral Blood, Extracted DNA, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| NDUFS1 Gene Mitochondrial Complex I Deficiency DNA Test TEST-5037 LOINC 94222-8 | This test identifies pathogenic variants in the NDUFS1 gene, which are associated with mitochondrial complex I deficiency, a severe neurometabolic dis... | Peripheral Blood (EDTA Whole Blood) | 10–12 Business Days | 2,800.00 AED | Details |
| NEK8 Gene Nephronophthisis Type 9 Genetic Test TEST-3645 LOINC 94475-1 | This test analyzes the NEK8 gene to detect pathogenic variants associated with autosomal recessive nephronophthisis type 9. | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| NOL3 Gene Familial Cortical Myoclonus Genetic Test TEST-5318 LOINC 21631-7 | This test identifies pathogenic variants in the NOL3 gene associated with familial cortical myoclonus using Next-Generation Sequencing (NGS). It detec... | Whole blood (3–5 mL in EDTA), extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| NPC1 Gene Niemann-Pick Disease Type C1 Genetic Test TEST-5971 LOINC 94070-5 | This genetic test identifies pathogenic variants in the NPC1 gene associated with Niemann-Pick disease type C1. | Peripheral whole blood, extracted DNA, or dried blood spot (FTA card) | 3 to 4 weeks | 2,800.00 AED | Details |
| NPR2 Gene Acromesomelic Dysplasia, Maroteaux Type Genetic Test (NGS) TEST-3097 LOINC 81309-1 | This test identifies pathogenic variants in the NPR2 gene associated with Acromesomelic dysplasia, Maroteaux type. | Whole Blood (EDTA) or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| NSD1 Gene Sequencing Test for Sotos Syndrome Type 1 TEST-2282 LOINC 90529-3 | This test detects pathogenic and likely pathogenic variants in the NSD1 gene, which are associated with Sotos syndrome type 1. | Whole Blood (EDTA), Extracted Genomic DNA, or FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| NXF5 Gene Genetic Test for Non-Syndromic Intellectual Disability TEST-4881 LOINC 81247-9 | This test identifies pathogenic variants in the NXF5 gene, confirming a genetic basis for non-syndromic intellectual disability. | Peripheral Whole Blood or FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| OPHN1 Gene X‑Linked Intellectual Disability with Cerebellar Hypoplasia Genetic Test TEST-4976 LOINC 93934-5 | This test analyzes the OPHN1 gene for pathogenic variants associated with X-linked intellectual disability, cerebellar hypoplasia, and distinctive fac... | Peripheral whole blood (5 mL in EDTA) or extracted DNA / FTA card | 3–4 Weeks (express available) | 2,800.00 AED | Details |
| PAX3 Gene (Waardenburg Syndrome Type 1) Genetic Test TEST-4476 LOINC 75166-5 | This test sequences the PAX3 gene to identify pathogenic variants associated with Waardenburg syndrome type 1. | Whole blood (3–5 mL in EDTA tube), extracted DNA, or buccal swab | 3–4 weeks | 2,800.00 AED | Details |
| PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 Genetic Test TEST-2587 LOINC 92809-0 | This test identifies pathogenic variants in the PCNT gene, confirming a diagnosis of Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD II... | Whole Blood or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| PDE6D Gene Joubert Syndrome Type 22 Genetic Test TEST-4587 LOINC 81247-9 | This test identifies pathogenic variants in the PDE6D gene associated with Joubert syndrome type 22. | Whole blood (3–5 ml in EDTA tube) or buccal swab | 3–4 weeks | 2,800.00 AED | Details |
| PDHA1 Gene (Leigh Syndrome, X-Linked) Genetic Test TEST-4752 LOINC 82272-8 | This test identifies pathogenic variants in the PDHA1 gene to confirm X-linked Leigh syndrome. | Peripheral Whole Blood, Extracted DNA, or FTA Card Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| PDSS1 Gene Coenzyme Q10 Deficiency Type 2 Genetic Test TEST-4127 LOINC 84318-7 | This test identifies pathogenic variants in the PDSS1 gene associated with primary coenzyme Q10 deficiency type 2. | Whole Blood, Extracted DNA, FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| PEX16 Gene Zellweger Syndrome Genetic Test TEST-5881 LOINC 92746-0 | This genetic test analyzes the PEX16 gene to identify pathogenic variants associated with Zellweger spectrum disorders. | Whole blood (EDTA) or extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| PEX5 Gene Rhizomelic Chondrodysplasia Punctata Type 5 Genetic Test TEST-2399 LOINC 47875-4 | This genetic test identifies pathogenic variants in the PEX5 gene associated with Rhizomelic Chondrodysplasia Punctata Type 5 (RCDP5). | Peripheral Whole Blood, FTA Card Spot, or Extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency Genetic Test TEST-5879 LOINC 94219-4 | This test identifies mutations in the PHGDH gene responsible for phosphoglycerate dehydrogenase deficiency. | Whole Blood, Extracted DNA, or One Drop of Blood on FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| PHYH Gene Refsum Disease Genetic Test TEST-5833 LOINC 21673-7 | This test evaluates the entire coding region of the PHYH gene for pathogenic variants associated with Refsum disease. | Whole Blood (EDTA) or Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| PI4KA Gene Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis Genetic Test TEST-2428 LOINC 82293-6 | This genetic test analyzes the PI4KA gene for pathogenic variants causing a rare brain malformation syndrome. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| PIEZO2 Gene Test TEST-4854 LOINC 21636-6 | This test identifies pathogenic variants in the PIEZO2 gene associated with Marden-Walker syndrome. | Peripheral whole blood (EDTA tube), or extracted DNA | 14–21 business days | 2,800.00 AED | Details |
| PIGL Gene CHIME Syndrome Genetic Test TEST-2977 LOINC 48004-6 | This test analyzes the PIGL gene to detect pathogenic variants associated with CHIME syndrome. | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot | 21–28 Calendar Days | 2,800.00 AED | Details |
| PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 (Mabry Syndrome) Genetic Test TEST-2728 LOINC 81248-2 | This test identifies pathogenic variants in the PIGV gene, confirming a diagnosis of Mabry Syndrome (Hyperphosphatasia with Mental Retardation Syndrom... | Peripheral whole blood, FTA card, or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| PITPNM3 Gene Cone-Rod Dystrophy Type 5 Genetic Test TEST-3604 LOINC 21636-6 | This genetic test evaluates the PITPNM3 gene for mutations linked to autosomal recessive cone-rod dystrophy type 5. | Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| PLA2G6 Gene: Infantile Neuroaxonal Dystrophy Type 1 (INAD) Genetic Test TEST-4555 LOINC 78146-2 | This test identifies pathogenic variants in the PLA2G6 gene associated with Infantile Neuroaxonal Dystrophy Type 1 (INAD). | Whole blood (2-5 mL EDTA), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| PLEKHM1 Gene Osteopetrosis, Autosomal Recessive Type 6 Genetic Test TEST-4667 LOINC 81409-7 | This genetic test identifies mutations in the PLEKHM1 gene associated with autosomal recessive osteopetrosis type 6. | Peripheral whole blood, extracted DNA, or FTA card | 3 to 4 Weeks | 2,800.00 AED | Details |
| PMM2 Gene Glycosylation Disorder Type 1A Genetic Test TEST-6368 LOINC 83024-6 | This genetic test identifies mutations in the PMM2 gene associated with Congenital Disorder of Glycosylation Type 1A. | Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| PNPLA2 Gene Neutral Lipid Storage Disease with Myopathy (NLSDM) Genetic Test TEST-5385 LOINC 94218-7 | This genetic test identifies pathogenic variants in the PNPLA2 gene associated with Neutral Lipid Storage Disease with Myopathy (NLSDM). | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 Genetic Test TEST-6231 LOINC 92988-2 | This test analyzes the PNPT1 gene to identify pathogenic variants associated with Combined Oxidative Phosphorylation Deficiency Type 13. | Peripheral whole blood (EDTA tube) | 3 to 4 Weeks | 2,800.00 AED | Details |
| POLE Gene (FILS Syndrome) Genetic Test TEST-2837 LOINC 69548-6 | This test identifies pathogenic variants within the POLE gene using next-generation sequencing. | Peripheral Whole Blood | 3 – 4 Weeks | 2,800.00 AED | Details |
| POMC Gene Obesity, Early-Onset, Susceptibility Test TEST-3620 LOINC 94233-4 | This genetic test evaluates the POMC gene for pathogenic variants linked to severe early-onset obesity and related endocrine disorders. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A3 Genetic Test TEST-5175 LOINC 78005-7 | This genetic test identifies disease-causing mutations in the POMGNT1 gene, confirming congenital muscular dystrophy with brain and eye anomalies. | Peripheral Whole Blood (3–5 mL in EDTA Tube) or DNA FTA Card | 3–4 Weeks (21–28 Calendar Days) | 2,800.00 AED | Details |
| POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C3 Genetic Test TEST-5189 LOINC 82373-2 | This genetic test analyzes the POMGNT1 gene to detect mutations associated with limb-girdle muscular dystrophy-dystroglycanopathy type C3. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| POMK Gene (Muscle-Eye-Brain Disease) Genetic Test TEST-5146 LOINC 91036-9 | This test evaluates the POMK gene for pathogenic variants associated with muscle-eye-brain disease, a form of congenital muscular dystrophy. | Whole Blood (Peripheral Blood) | 3 to 4 Weeks | 2,800.00 AED | Details |
| POU1F1 Gene Pituitary Hormone Deficiency Type 1 Genetic Test TEST-2442 LOINC 101367-9 | This test evaluates the POU1F1 gene for variants associated with combined pituitary hormone deficiency type 1 (CPHD1). | Whole Blood, Buccal Swab, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| PREPL Gene Hypotonia‑Cystinuria Syndrome Genetic Test TEST-3737 LOINC 55233-1 | This genetic test identifies pathogenic variants in the PREPL gene, confirming a diagnosis of hypotonia-cystinuria syndrome. | Whole Blood (EDTA) or FTA Card | 3-4 Weeks | 2,800.00 AED | Details |
| PRG4 Gene Sequencing (CACP Syndrome) Test TEST-3010 LOINC 103438-9 | This test identifies pathogenic variants in the PRG4 gene, providing molecular confirmation for CACP syndrome. | Peripheral blood (2–5 mL EDTA), extracted DNA, or dried blood spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| PRKAG2 Gene Glycogen Storage Disease of Heart (Lethal) Genetic Test TEST-6358 LOINC 48758-1 | This genetic test identifies pathogenic variants in the PRKAG2 gene associated with a severe, often fatal, form of heart muscle disease (cardiomyopath... | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| PRPS1 Gene Sequencing for X‑Linked Deafness Type 1 (DFNX1) Test TEST-5573 LOINC 76943-6 | This test evaluates the PRPS1 gene for pathogenic variants associated with X-linked sensorineural deafness type 1. | Whole blood (EDTA), Extracted DNA, FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| PRRT2 Gene (Benign Familial Infantile Seizures Type 2) Genetic Test TEST-5584 LOINC 92238-4 | This genetic test identifies pathogenic variants in the PRRT2 gene associated with benign familial infantile seizures type 2 (BFIS2). | Whole blood (EDTA tube), dried blood spot (FTA card), or pre-extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| PSAP Gene Sequencing for Metachromatic Leukodystrophy (Saposin B Deficiency) Test TEST-4990 LOINC 94450-8 | This test analyzes the PSAP gene for pathogenic variants associated with Metachromatic Leukodystrophy (Saposin B Deficiency). It uses Next-Generation... | Peripheral whole blood, dried blood spot, or extracted DNA | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| PTF1A Gene Pancreatic Agenesis Type 2 Genetic Test TEST-5901 LOINC 94471-7 | This genetic test analyzes the PTF1A gene to detect mutations causing pancreatic agenesis type 2. | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| PTPN14 Gene Choanal Atresia and Lymphedema Genetic Test TEST-5333 LOINC 91853-6 | This genetic test identifies pathogenic variants in the PTPN14 gene, confirming hereditary lymphedema-choanal atresia syndrome. | Peripheral whole blood, extracted DNA, or FTA card (dried blood spot) | 3–4 Weeks | 2,800.00 AED | Details |
| PYCR1 Gene (Cutis Laxa Type 3B, Autosomal Recessive) Genetic Test TEST-5233 LOINC 94448-5 | This genetic test identifies pathogenic variants in the PYCR1 gene associated with autosomal recessive cutis laxa type 3B. | Whole Blood or FTA Card Specimen | 3 to 4 Weeks | 2,800.00 AED | Details |
| RAB3GAP2 Gene (Martsolf Syndrome) Genetic Test TEST-2616 LOINC 81315-1 | This test analyzes the RAB3GAP2 gene to detect pathogenic variants associated with Martsolf syndrome. | Whole Blood (EDTA) or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| RAF1 Gene Noonan Syndrome Type 5 Genetic Test TEST-2491 LOINC 21636-6 | This test identifies pathogenic variants in the RAF1 gene, confirming a diagnosis of Noonan Syndrome Type 5. | Whole Blood (EDTA), Buccal Swab, or Extracted Genomic DNA | 14 – 21 Working Days | 2,800.00 AED | Details |
| RBCK1 Gene Polyglucosan Body Myopathy Type 1 (PGBM1) Test TEST-5575 LOINC 55233-1 | This test identifies pathogenic mutations in the RBCK1 gene, confirming a diagnosis of Polyglucosan Body Myopathy Type 1 (PGBM1). | Whole blood, Extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| REEP2 (SPG72) Gene Genetic Test TEST-5812 LOINC 55233-1 | This test identifies pathogenic variants in the REEP2 gene associated with Hereditary Spastic Paraplegia Type 72. | Whole blood (EDTA), Extracted DNA (≥1 µg), or Dried Blood Spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| RFX6 Gene Mitchell‑Riley Syndrome Genetic Test TEST-6020 LOINC 95005-5 | This genetic test analyzes the RFX6 gene to detect mutations associated with Mitchell‑Riley syndrome. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| RGS9 Gene Bradyopsia Genetic Test TEST-3518 LOINC 81247-9 | This genetic test identifies pathogenic variants in the RGS9 gene associated with bradyopsia, a rare inherited retinal disorder affecting light adapta... | Peripheral whole blood or dried blood spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| RIT1 Gene Noonan Syndrome Type 8 Genetic Test TEST-2500 LOINC 81321-6 | This test detects pathogenic single-nucleotide variants and small insertions or deletions within the coding exons and flanking intronic regions of the... | Whole Blood (EDTA) or FTA Card | 21–28 business days | 2,800.00 AED | Details |
| RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11 Genetic Test TEST-6227 LOINC 21659-2 | This genetic test identifies disease-causing mutations in the RMND1 gene, confirming a diagnosis of combined oxidative phosphorylation deficiency type... | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3-4 weeks from sample receipt | 2,800.00 AED | Details |
| RPL21 Gene Hypotrichosis Type 12 Genetic Test TEST-5014 LOINC 81247-9 | This genetic test identifies pathogenic variants in the RPL21 gene associated with hypotrichosis type 12. | Whole blood (EDTA, 3-5 mL) or FTA card | 3 – 4 Weeks | 2,800.00 AED | Details |
| RPS17 Gene Diamond-Blackfan Anemia Type 4 Genetic Test TEST-3282 LOINC 21674-6 | This genetic test detects pathogenic variants in the RPS17 gene, which are linked to Diamond-Blackfan anemia type 4. | Peripheral whole blood or buccal swab | 3–4 Weeks from sample receipt | 2,800.00 AED | Details |
| RPS6KA3 Gene Mental Retardation, X-Linked Type 19 Genetic Test TEST-5022 LOINC 81247-9 | This genetic test identifies pathogenic mutations in the RPS6KA3 gene, which are associated with X-linked intellectual disability type 19. | Peripheral Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| RSPH9 Gene (Primary Ciliary Dyskinesia Type 12) Genetic Test TEST-5529 LOINC 21636-6 | This genetic test identifies pathogenic variants in the RSPH9 gene, confirming a diagnosis of Primary Ciliary Dyskinesia Type 12. | Peripheral whole blood | 3–4 weeks (21–28 calendar days) | 2,800.00 AED | Details |
| SALL1 Gene Townes-Brocks Syndrome Genetic Test TEST-2226 LOINC 92104-8 | This genetic test evaluates the SALL1 gene for pathogenic variants associated with Townes-Brocks syndrome. | Whole Blood (EDTA) or Extracted DNA | 14–21 Business Days (3–4 Weeks) | 2,800.00 AED | Details |
| SALL4 Gene IVIC Syndrome Genetic Test TEST-2706 LOINC 94411-0 | This test detects pathogenic variants in the SALL4 gene associated with oculo‑oto‑radial syndrome. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| SARS2 Gene Genetic Test for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis (HUPRA Syndrome) TEST-6195 LOINC 101264-6 | This test identifies pathogenic genetic variants in the SARS2 gene responsible for HUPRA syndrome. | Whole blood (3 mL EDTA), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| SCP2 Gene Leukoencephalopathy with Dystonia and Motor Neuropathy Genetic Test (NGS) TEST-4778 LOINC 93333-9 | This genetic test detects pathogenic variants in the SCP2 gene associated with leukoencephalopathy, dystonia, and motor neuropathy. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| SEC23B Gene CDAN2 (Congenital Dyserythropoietic Anemia Type II) Genetic Test TEST-6096 LOINC 101464-8 | This genetic test identifies pathogenic mutations in the SEC23B gene responsible for Congenital Dyserythropoietic Anemia Type II (CDA II). | Peripheral Blood (3-5 mL), Buccal Swab, or FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| SERPINE1 Gene (Plasminogen Activator Inhibitor Type 1) Genetic Test TEST-4015 LOINC 83019-5 | This genetic test evaluates the SERPINE1 gene for pathogenic variants associated with altered PAI-1 function and increased risk of thrombotic events. | Peripheral Whole Blood (EDTA) or DNA FTA Card | 21–28 Working Days | 2,800.00 AED | Details |
| SFXN4 Gene Combined Oxidative Phosphorylation Deficiency Type 18 Genetic Test TEST-6143 LOINC 48768-0 | This genetic test identifies pathogenic variants in the SFXN4 gene associated with Combined Oxidative Phosphorylation Deficiency Type 18. | Peripheral blood (EDTA tube), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| SKIV2L Gene Trichohepatoenteric Syndrome Type 2 Genetic Test TEST-4505 LOINC 21651-4 | This genetic test analyzes the SKIV2L gene to detect mutations associated with Trichohepatoenteric Syndrome Type 2 (THES2). It provides definitive mol... | Whole Blood (3–5 mL in EDTA tube), Extracted DNA, or FTA Card Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| SLC24A4 Genetic Test (Oculocutaneous Albinism Type 6 & Pigmentation Disorders) TEST-4572 LOINC 83435-2 | This diagnostic test evaluates the SLC24A4 gene for variants associated with oculocutaneous albinism type 6 and other pigmentation disorders. | Peripheral whole blood (EDTA tube) or capillary blood (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| SLC25A1 Gene Combined D-2- and L-2-Hydroxyglutaric Aciduria Genetic Test TEST-6221 LOINC 81319-4 | This genetic test detects pathogenic variants in the SLC25A1 gene to confirm a diagnosis of combined D-2- and L-2-hydroxyglutaric aciduria. | Peripheral Blood (EDTA) or Saliva (Oragene DNA kit) | 3–4 Weeks | 2,800.00 AED | Details |
| SLC25A3 Gene Genetic Test TEST-6016 LOINC 94806-7 | This test evaluates the SLC25A3 gene for pathogenic variants associated with mitochondrial phosphate carrier deficiency. | Whole Blood or DNA Sample (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| SLC25A38 Gene Pyridoxine-Refractory Sideroblastic Anemia Genetic Test TEST-3360 LOINC 81369-6 | This test identifies pathogenic variants within the SLC25A38 gene associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. | Peripheral Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| SLC29A3 Gene Histiocytosis‑Lymphadenopathy Plus Syndrome Genetic Test TEST-5018 LOINC 92726-2 | This genetic test evaluates the SLC29A3 gene for mutations associated with histiocytosis‑lymphadenopathy plus syndrome (H syndrome). It identifies pat... | Whole Blood (peripheral) or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| SLC34A1 Gene Fanconi Renotubular Syndrome Type 2 Genetic Test TEST-3831 LOINC 81322-0 | This test identifies pathogenic mutations in the SLC34A1 gene, confirming a diagnosis of Fanconi renotubular syndrome type 2. | Peripheral whole blood (3-5 mL in EDTA tube), extracted DNA, or FTA card | 3 to 4 weeks | 2,800.00 AED | Details |
| SLC35A1 Gene (CDG IIF) Next‑Generation Sequencing Genetic Test TEST-4475 LOINC 79231-5 | This test detects pathogenic variants in the SLC35A1 gene associated with Congenital Disorder of Glycosylation Type IIF (CDG IIF). | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| SLC35D1 Gene Sequencing for Schneckenbecken Dysplasia (NGS) Test TEST-2352 LOINC 103304-4 | This test analyzes the SLC35D1 gene to detect mutations associated with Schneckenbecken dysplasia. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| SLC5A7 Gene Analysis (Congenital Myasthenic Syndrome Type 20, Presynaptic) Test TEST-5216 LOINC 81328-4 | This genetic test identifies pathogenic variants in the SLC5A7 gene associated with Presynaptic Congenital Myasthenic Syndrome Type 20. | Whole blood (3–5 mL in EDTA tube), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| SLC6A8 Gene (Creatine Deficiency Syndrome, X‑Linked) Genetic Test TEST-4158 LOINC 91872-3 | This genetic test evaluates the SLC6A8 gene for mutations causing X-linked creatine deficiency syndrome. | Whole Blood (venous) or Finger‑Prick Dried Blood Spot on FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| SMAD4 Gene Test (Juvenile Polyposis & HHT) NGS DNA Sequencing TEST-2030 LOINC 21645-8 | This test identifies pathogenic variants in the SMAD4 gene associated with Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia... | Peripheral Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3 – 4 Weeks | 2,800.00 AED | Details |
| SMARCAD1 Gene Adermatoglyphia Genetic Test TEST-5477 LOINC 81335-5 | This test identifies pathogenic or likely pathogenic variants in the SMARCAD1 gene associated with autosomal dominant adermatoglyphia. | Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| SMARCE1 Gene Genetic Test for Coffin-Siris Syndrome TEST-2948 LOINC 92709-6 | This diagnostic test evaluates the SMARCE1 gene for pathogenic variants associated with Coffin-Siris syndrome and meningioma predisposition. | Peripheral whole blood (FTA card or EDTA tube) | 3–4 weeks | 2,800.00 AED | Details |
| SMC1A Gene Cornelia de Lange Syndrome Type 2 Genetic Test TEST-5258 LOINC 94297-1 | This test detects pathogenic variants in the SMC1A gene, confirming a diagnosis of Cornelia de Lange syndrome type 2. | Peripheral blood, dried blood spot, or extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| SNX10 Gene Osteopetrosis of Infancy, Malignant Genetic Test TEST-4703 LOINC 48018-6 | This test detects pathogenic variants in the SNX10 gene associated with malignant infantile osteopetrosis. | Whole blood (EDTA), FTA card, or extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| SNX14-Related Cerebellar Ataxia Genetic Test TEST-4024 LOINC 81248-8 | This test identifies pathogenic variants in the SNX14 gene associated with autosomal recessive spinocerebellar ataxia type 20 (SCAR20). | Peripheral Whole Blood (3–5 mL in EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| SOAT1 Gene Atherosclerosis Genetic Test TEST-4038 LOINC 21636-3 | This test evaluates the SOAT1 gene for variants associated with an increased risk of early-onset atherosclerosis. | Whole blood, extracted DNA, or FTA card blood spot | 3–4 Weeks | 2,800.00 AED | Details |
| SOBP Gene Intellectual Disability, Anterior Maxillary Protrusion & Strabismus NGS Test TEST-4898 LOINC 91606-7 | This test identifies genetic variants in the SOBP gene associated with intellectual disability, anterior maxillary protrusion, and strabismus. | Whole blood (EDTA), extracted genomic DNA, dried FTA card | 3–4 weeks (21–28 business days) | 2,800.00 AED | Details |
| SOX10 Gene Genetic Test for Peripheral Demyelinating Neuropathy, Waardenburg Syndrome & Hirschsprung Disease TEST-5460 LOINC 93466-1 | This test evaluates the SOX10 gene for pathogenic variants associated with peripheral demyelinating neuropathy, Waardenburg syndrome type IV, and Hirs... | Peripheral whole blood (3 mL EDTA), extracted DNA (≥2 µg), or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| SOX10 Gene Waardenburg Syndrome Type 4C Genetic Test TEST-4473 LOINC 94850-3 | This test analyzes the SOX10 gene for mutations associated with Waardenburg syndrome type 4C. | Peripheral Whole Blood (EDTA tube) or Buccal Swab | 3 to 4 Weeks | 2,800.00 AED | Details |
| SOX18 Gene Hypotrichosis‑Lymphedema‑Telangiectasia Syndrome Genetic Test TEST-4998 LOINC 88550-6 | This genetic test evaluates the SOX18 gene for pathogenic variants associated with Hypotrichosis‑Lymphedema‑Telangiectasia Syndrome (HLTS). | Peripheral whole blood | 3–4 Weeks | 2,800.00 AED | Details |
| SPTLC1 Gene HSAN1 Genetic Test TEST-4498 LOINC 94216-8 | This genetic test detects pathogenic variants in the SPTLC1 gene to confirm a diagnosis of hereditary sensory and autonomic neuropathy type 1 (HSAN1). | Peripheral whole blood, extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| SRPX2 Gene DNA Test for Rolandic Epilepsy, Intellectual Disability & Speech Dyspraxia TEST-5566 LOINC 51955-5 | This test identifies pathogenic variants in the SRPX2 gene associated with Rolandic epilepsy, intellectual disability, and speech dyspraxia. | Peripheral Whole Blood, Dried Blood Spot (DBS), or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| ST3GAL3 Gene (Mental Retardation, Autosomal Recessive Type 12) Genetic Test TEST-4955 LOINC 82914-3 | This genetic test identifies pathogenic variants in the ST3GAL3 gene associated with autosomal recessive intellectual disability type 12. | Peripheral whole blood or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| STIM1 Gene Myopathy, Tubular Aggregate, Type 1 Genetic Test TEST-5363 LOINC 94233-3 | This test identifies pathogenic variants in the STIM1 gene associated with tubular aggregate myopathy type 1. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card | 21 – 28 calendar days | 2,800.00 AED | Details |
| STRADA Gene Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Genetic Test TEST-2420 LOINC 55233-1 | This test evaluates the STRADA gene for pathogenic variants associated with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy (PMSE) syndrome. | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| STX1B Gene Generalized Epilepsy with Febrile Seizures Plus Type 9 Genetic Test TEST-4518 LOINC 85443-8 | This test analyzes the STX1B gene for mutations associated with generalized epilepsy with febrile seizures plus (GEFS+) type 9. | Whole blood (EDTA) or FTA card finger-prick | 3 to 4 weeks | 2,800.00 AED | Details |
| SURF1 Gene Analysis (Leigh Syndrome, COX Deficiency) Test TEST-4651 LOINC 101388-0 | This test identifies pathogenic variants within the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase (COX) deficiency. | Peripheral whole blood (3–5 mL in EDTA tube); alternative buccal swab accepted for paediatric cases | 3–4 Weeks | 2,800.00 AED | Details |
| SYN1 Gene Epilepsy Test (X-Linked, Genetic) TEST-4379 LOINC 81247-9 | This test analyzes the SYN1 gene to identify mutations associated with X-linked epilepsy and related neurodevelopmental disorders. | Peripheral whole blood (EDTA), extracted DNA, or dried blood spot | 3 to 4 Weeks from sample receipt | 2,800.00 AED | Details |
| SYP Gene X-Linked Intellectual Disability Type 96 Genetic Test TEST-5063 LOINC 81305-3 | This test analyzes the SYP gene for pathogenic variants associated with X-linked intellectual disability type 96. | Whole Blood (3–5 mL in EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| TALDO1 Gene Transaldolase Deficiency Genetic Test TEST-5783 LOINC 81271-5 | This genetic test identifies mutations in the TALDO1 gene associated with transaldolase deficiency. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| TBX5 Gene Holt-Oram Syndrome Genetic Test TEST-2739 LOINC 100267-2 | This genetic test analyzes the TBX5 gene to detect variants associated with Holt-Oram syndrome. | Whole blood (EDTA tube), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| TGFBI Gene Corneal Dystrophy Genetic Testing (NGS) Test TEST-3588 LOINC 81247-9 | This test identifies pathogenic variants in the TGFBI gene associated with epithelial basement membrane corneal dystrophy. | Peripheral whole blood (venous) or FTA card (dried blood spot) or previously extracted DNA | 3 to 4 weeks from sample receipt | 2,800.00 AED | Details |
| TK2 Gene Mitochondrial DNA Depletion Syndrome Genetic Test (NGS) TEST-5091 LOINC 87809-3 | This test detects pathogenic variants in the TK2 gene associated with mitochondrial DNA depletion syndrome. | Whole blood, extracted DNA, dried blood spot (FTA card) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| TMEM173 Gene (STING) Vasculopathy Genetic Test TEST-4506 LOINC 91856-0 | This test identifies pathogenic variants in the TMEM173 gene, confirming a diagnosis of STING-associated vasculopathy with onset in infancy (SAVI). | Whole Blood (EDTA) or Extracted DNA | 3 – 4 weeks | 2,800.00 AED | Details |
| TMEM67 Gene (Meckel Syndrome Type 3) Genetic Test TEST-3646 LOINC 81316-6 | This genetic test identifies pathogenic variants in the TMEM67 gene associated with Meckel syndrome type 3. | Whole Blood (EDTA), Extracted DNA, or FTA Card Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| TNFRSF1A Gene Periodic Fever (TRAPS) Genetic Test TEST-5954 LOINC 83504-5 | This genetic test identifies pathogenic variants in the TNFRSF1A gene, which are the cause of Tumor Necrosis Factor Receptor-Associated Periodic Syndr... | Peripheral Whole Blood (EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| TNNI3 Gene Familial Hypertrophic Cardiomyopathy Type 7 DNA Test TEST-4278 LOINC 93929-2 | This test identifies pathogenic variants in the TNNI3 gene associated with familial hypertrophic cardiomyopathy type 7. | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| TNNT1 Gene Nemaline Myopathy Type 5 Genetic Test TEST-5298 LOINC 55233-1 | This test identifies pathogenic variants in the TNNT1 gene associated with nemaline myopathy type 5. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| TP63 Gene ADULT Syndrome & Split Hand-Foot Malformation Genetic Test TEST-3125 LOINC 94218-3 | This test evaluates the TP63 gene for pathogenic variants associated with ADULT syndrome and split hand-foot malformation. | Peripheral Whole Blood or DBS on FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| TP63 Gene Rapp-Hodgkin Syndrome Genetic Test TEST-2410 LOINC 48018-6 | This genetic test analyzes the TP63 gene to identify mutations causing Rapp-Hodgkin syndrome. | Whole Blood (EDTA) or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| TRIM32 Gene (Bardet-Biedl Syndrome Type 11) NGS Test TEST-3916 LOINC 50397-9 | This test detects pathogenic variants in the TRIM32 gene associated with Bardet-Biedl syndrome type 11. | Whole Blood or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| TRPS1 Gene (Trichorhinophalangeal Syndrome Type 1) Genetic Test TEST-4523 LOINC 94218-9 | This test identifies pathogenic variants in the TRPS1 gene associated with Trichorhinophalangeal Syndrome Type 1. | Whole Blood (3–5 mL) or Dried Blood Spot (FTA Card) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| TRPS1 Gene Langer‑Giedion Syndrome Genetic Test TEST-2665 LOINC 21636-6 | This test detects pathogenic variants in the TRPS1 gene to confirm a diagnosis of Langer‑Giedion syndrome. | Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| TSEN54 Gene Pontocerebellar Hypoplasia Type 5 Genetic Test TEST-5507 LOINC 54236-8 | This genetic test identifies pathogenic variants in the TSEN54 gene associated with pontocerebellar hypoplasia type 5. | Peripheral whole blood or dried blood spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| TSPAN12 Gene Exudative Vitreoretinopathy Type 5 Genetic Test TEST-3622 LOINC 21613-5 | This test identifies pathogenic variants in the TSPAN12 gene associated with familial exudative vitreoretinopathy type 5. | Peripheral Whole Blood (EDTA) or FTA Card (Dried Blood Spot) | 21–28 Calendar Days | 2,800.00 AED | Details |
| TTC19 Gene Mitochondrial Complex III Deficiency, Nuclear Type 2 Genetic Test TEST-5165 LOINC 83573-1 | This genetic test identifies pathogenic mutations within the TTC19 gene, which are responsible for causing mitochondrial complex III deficiency, a con... | Whole Blood (2–3 mL EDTA), Extracted DNA (1 µg), or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| TTN Gene Hereditary Myopathy with Early Respiratory Failure Genetic Test TEST-4566 LOINC 21678-5 | This genetic test evaluates the TTN gene for pathogenic variants associated with hereditary myopathy with early respiratory failure (HMERF). | Peripheral whole blood (EDTA, 3–5 mL); alternative: extracted DNA (≥1 µg) or dried blood spot on FTA card. FFPE tissue blocks accepted on a case-by-case basis. | 3–4 weeks | 2,800.00 AED | Details |
| TUBA1A Gene Lissencephaly Type 3 Genetic Test TEST-2634 LOINC 101673-8 | This test evaluates the TUBA1A gene for pathogenic variants associated with lissencephaly type 3. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| TUFT1 Gene Tuftelin Deficiency Genetic Test TEST-4493 LOINC 21636-6 | This test evaluates the TUFT1 gene for mutations associated with tuftelin deficiency, which can cause enamel defects and immune system issues. | Peripheral whole blood (3–5 mL in EDTA tube) or saliva (Oragene kit) | 3–4 weeks | 2,800.00 AED | Details |
| TWIST1 Gene Saethre-Chotzen Syndrome Genetic Test TEST-2364 LOINC 81264-7 | This test evaluates the TWIST1 gene for pathogenic variants associated with Saethre-Chotzen syndrome. | Peripheral Whole Blood (EDTA) | 21–28 Business Days | 2,800.00 AED | Details |
| TWIST1 Gene Sequencing for Robinow‑Sorauf Syndrome (NGS) Test TEST-2370 LOINC 81307-2 | This test analyzes the TWIST1 gene to detect mutations associated with Robinow‑Sorauf syndrome, a rare autosomal dominant disorder. | Whole blood (3–5 mL in EDTA tube), or extracted DNA (5 µg minimum) | 3–4 weeks | 2,800.00 AED | Details |
| TYK2 Gene Tyrosine Kinase 2 Deficiency Genetic Test TEST-5771 LOINC 101246-5 | This genetic test identifies pathogenic variants in the TYK2 gene associated with primary immunodeficiencies like autosomal recessive hyper-IgE syndro... | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| UGT1A1 Gene Crigler-Najjar Syndrome Type 2 Genetic Test TEST-3905 LOINC 81289-2 | This genetic test identifies pathogenic variants in the UGT1A1 gene associated with Crigler-Najjar syndrome type 2. | Whole Blood, Extracted DNA, FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| UQCC2 Single-Gene NGS Test for Mitochondrial Complex III Deficiency, Nuclear Type 7 TEST-2537 LOINC 96409-4 | This test identifies pathogenic variants in the UQCC2 gene, confirming the diagnosis of nuclear type 7 mitochondrial complex III deficiency. | Peripheral whole blood or FTA card blood spot | 3–4 Weeks | 2,800.00 AED | Details |
| UQCRB Gene Test TEST-5056 LOINC 72296-1 | This test evaluates the UQCRB gene for pathogenic variants associated with mitochondrial complex III deficiency. | Peripheral Whole Blood | 3–4 weeks | 2,800.00 AED | Details |
| UQCRC2 Gene Mitochondrial Complex III Deficiency Genetic Test TEST-5161 LOINC 92653-0 | This test identifies pathogenic variants within the UQCRC2 gene, which are associated with mitochondrial complex III deficiency, a rare neurometabolic... | Peripheral whole blood (3–5 mL in EDTA tube), or extracted genomic DNA, or FTA card spot. | 3–4 Weeks | 2,800.00 AED | Details |
| UROC1 Gene Urocanase Deficiency Genetic Test TEST-5941 LOINC 89278-4 | This genetic test detects pathogenic variants in the UROC1 gene associated with urocanase deficiency. | Whole blood (3-5 ml in EDTA tube) or extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| VEGFA Gene Genetic Test for Microvascular Complications of Diabetes Type 1 TEST-5972 LOINC 81256-6 | This test evaluates pathogenic variants in the VEGFA gene associated with increased risk for microvascular complications in type 1 diabetes. | Whole blood (EDTA tube), extracted DNA, or FTA card spot | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| VPS45 Gene Severe Congenital Neutropenia Type 5 (Autosomal Recessive) Genetic Test TEST-4762 LOINC 21637-6 | This test identifies pathogenic variants in the VPS45 gene associated with severe congenital neutropenia type 5. | Whole blood (EDTA), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| WDR19 Gene Sequencing (Short-Rib Thoracic Dysplasia Type 5) Genetic Test TEST-2316 LOINC 95308-5 | This test analyzes the WDR19 gene for mutations associated with short-rib thoracic dysplasia type 5 (SRTD5). It uses next-generation sequencing (NGS)... | Peripheral Whole Blood (EDTA) or Buccal Swab | 3 – 4 Weeks | 2,800.00 AED | Details |
| WDR73 Gene Galloway-Mowat Syndrome Genetic Test TEST-2825 LOINC 101426-0 | This test analyzes the WDR73 gene for pathogenic variants associated with Galloway-Mowat syndrome. | Whole blood (peripheral), FTA card, or extracted genomic DNA | 3–4 weeks | 2,800.00 AED | Details |
| WNT4 Gene SERKAL Syndrome Genetic Test TEST-2327 LOINC 79500-5 | This test evaluates the WNT4 gene for variants associated with SERKAL syndrome, characterized by sex reversal, renal agenesis, and adrenal hypoplasia. | Whole Blood (Peripheral) or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| WNT5A Gene (Robinow Syndrome, Autosomal Dominant Type 1) Genetic Test TEST-2391 LOINC 52050-5 | This test evaluates the WNT5A gene for pathogenic variants associated with autosomal dominant Robinow syndrome. | Whole Blood (EDTA) – 5 mL | 3–4 Weeks (expedited options available) | 2,800.00 AED | Details |
| XPR1 Gene Sequencing Test TEST-3041 LOINC 82939-0 | This diagnostic test evaluates the XPR1 gene for variants associated with idiopathic basal ganglia calcification type 6. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| YWHAE Gene Miller‑Dieker Lissencephaly Syndrome Genetic Test TEST-2527 LOINC 101107-6 | This test analyzes the YWHAE gene for variants associated with Miller‑Dieker lissencephaly syndrome (MDLS). It provides a definitive molecular diagnos... | Whole Blood (EDTA), FTA Card, Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| ZMPSTE24 Gene Genetic Test for Mandibuloacral Dysplasia with Type B Lipodystrophy TEST-4814 LOINC 94086-4 | This test evaluates the ZMPSTE24 gene for pathogenic variants associated with mandibuloacral dysplasia with type B lipodystrophy. | Peripheral Whole Blood (3–5 mL in EDTA tube) or FTA Card Spot | 3–4 Weeks | 2,800.00 AED | Details |
Clinical overview
About Single Gene
When clinical symptoms or family history point directly toward a specific inherited condition, highly focused genetic testing provides the exact, rapid insights necessary for peace of mind. Integrated into our advanced Molecular Genetics services, Single Gene testing meticulously analyzes one specific gene for known disease-causing mutations. Utilizing cutting-edge diagnostic technology, this highly focused molecular screening helps confirm or rule out precise genetic traits, safely guiding targeted medical interventions and family planning strategies. Recognized for specialized diagnostic excellence among diagnostic labs in the UAE, DNA Labs ensures absolute patient confidentiality, exceptional analytical precision, and incredibly efficient turnaround times. Take an informed step forward in your health journey—schedule your single gene testing in UAE, book a secure home sample collection, or reach out to our expert medical professionals.
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 Single Gene testing at DNA Labs UAE. This information is general and does not replace advice from your treating clinician.
How do I choose the right Single Gene 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 Single Gene 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 Single Gene 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.
- Home collection available across the UAE
- Digital reports delivered securely
- Confidential handling of every request
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