Genetics
Gene Sequencing 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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Gene Sequencing investigations
All 143 investigations in this category are listed below.
| Test | What it measures | Specimen | Turnaround | Price | Book |
|---|---|---|---|---|---|
| ABCA3 Gene Surfactant Metabolism Dysfunction Type 3 Genetic Test TEST-5861 LOINC 94251-2 | This test evaluates the ABCA3 gene for pathogenic variants associated with Surfactant Metabolism Dysfunction Type 3. | Peripheral whole blood (2–5 mL in EDTA tube) | 3 – 4 Weeks | 2,800.00 AED | Details |
| ABCB1 Gene Inflammatory Bowel Disease Type 13 Genetic Test TEST-4862 LOINC 21646-6 | This test evaluates the ABCB1 gene for pathogenic variants associated with increased susceptibility to Inflammatory Bowel Disease type 13. | Whole Blood (venous) | 3 to 4 Weeks | 2,800.00 AED | Details |
| ACADS Gene (Acyl-CoA Short-Chain Dehydrogenase Deficiency) Genetic Test TEST-6058 LOINC 81305-9 | This diagnostic test evaluates the ACADS gene for mutations associated with short-chain acyl-CoA dehydrogenase deficiency (SCADD). | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| ACSF3 Gene Test for Combined Malonic and Methylmalonic Aciduria (NGS) TEST-6125 LOINC 101872-5 | This test identifies pathogenic variants in the ACSF3 gene associated with Combined Malonic and Methylmalonic Aciduria. | Peripheral whole blood (or tissue biopsy) | 3–4 Weeks | 2,800.00 AED | Details |
| ACTA2 Gene Multisystemic Smooth Muscle Dysfunction Syndrome Genetic Test TEST-4166 LOINC 21678-0 | This genetic test analyzes the ACTA2 gene for mutations associated with Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS). It identifies pathog... | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| ADAM10 Gene Sequencing for Reticulate Acropigmentation of Kitamura (RAK) Test TEST-4604 LOINC 21636-6 | This test identifies pathogenic variants in the ADAM10 gene associated with Reticulate Acropigmentation of Kitamura (RAK). | Peripheral whole blood | 3 to 4 weeks | 2,800.00 AED | Details |
| ADK Gene Hypermethioninemia due to Adenosine Kinase Deficiency Test TEST-6222 LOINC 81315-5 | This genetic test identifies pathogenic variants in the adenosine kinase (ADK) gene, confirming a diagnosis of hypermethioninemia due to adenosine kin... | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| AIFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 6 Genetic Test TEST-6266 LOINC 92762-7 | This genetic test identifies mutations in the AIFM1 gene associated with combined oxidative phosphorylation deficiency type 6. | Whole Blood (Peripheral) | 3 – 4 weeks | 2,800.00 AED | Details |
| AK2 Gene Reticular Dysgenesis Genetic Test TEST-4585 LOINC 101371-1 | This genetic test identifies pathogenic variants in the AK2 gene, confirming a diagnosis of reticular dysgenesis. | Whole Blood (EDTA) or DNA FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| ALPL Gene Hypophosphatasia (Adult) Genetic Test TEST-6110 LOINC 81239-4 | This genetic test identifies mutations within the ALPL gene, which are responsible for causing adult hypophosphatasia. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| AMH Gene Persistent Müllerian Duct Syndrome Type 1 Genetic Test TEST-3425 LOINC 81653-4 | This test detects pathogenic variants in the AMH gene associated with Persistent Müllerian Duct Syndrome Type 1. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| ANO5 Gene Gnathodiaphyseal Dysplasia Genetic Test TEST-5058 LOINC 82293-6 | This test analyzes the ANO5 gene for mutations associated with gnathodiaphyseal dysplasia (GDD). It identifies variants like single-nucleotide changes... | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| APOE Gene Lipoprotein Glomerulopathy Genetic Test TEST-3704 LOINC 21673-1 | This genetic test identifies pathogenic variants in the APOE gene associated with lipoprotein glomerulopathy. | Whole Blood (EDTA), FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| ATP1A3 Gene Alternating Hemiplegia of Childhood Type 2 (AHC2) Genetic Test TEST-3764 LOINC 98995-9 | This test evaluates the ATP1A3 gene for pathogenic variants associated with Alternating Hemiplegia of Childhood type 2 (AHC2). It uses Next-Generation... | Whole Blood (EDTA tube), Extracted DNA, or Dried Blood Spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22 Genetic Test TEST-6251 LOINC 90507-4 | This test identifies pathogenic variants in the ATP5F1A gene associated with combined oxidative phosphorylation deficiency type 22 (COXPD22). It uses... | Whole Blood (EDTA tube), Extracted DNA, or FTA Card Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| ATP6V0A4 Gene Distal Renal Tubular Acidosis (Autosomal Recessive) NGS Test TEST-3496 LOINC 21636-6 | This test identifies pathogenic variants in the ATP6V0A4 gene associated with autosomal recessive distal renal tubular acidosis. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| CACNA1D Gene Sinoatrial Node Dysfunction and Deafness Genetic Test TEST-5526 LOINC 83018-4 | This genetic test identifies pathogenic variants in the CACNA1D gene associated with hereditary sinoatrial node dysfunction and sensorineural hearing... | Peripheral whole blood or dried blood spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| CASR Gene Hypocalcemia, Autosomal Dominant with Bartter Syndrome NGS Test TEST-3734 LOINC 94726-9 | This test sequences the CASR gene to detect activating mutations causing autosomal dominant hypocalcemia with Bartter syndrome. | Whole Blood, Extracted DNA, FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| CC2D2A Gene Joubert Syndrome Type 9 Genetic Test TEST-4688 LOINC 21748-6 | This diagnostic test evaluates the CC2D2A gene for pathogenic variants associated with Joubert syndrome type 9. | Peripheral blood (3-5 mL in EDTA) or Dried Blood Spot (FTA card) | 3-4 weeks | 2,800.00 AED | Details |
| CD40LG Gene Immunodeficiency, X-linked with Hyper-IgM Genetic Test TEST-4891 LOINC 96720-3 | This test evaluates the CD40LG gene for pathogenic variants associated with X-linked hyper-IgM syndrome (HIGM1). | Peripheral Whole Blood (EDTA) or FTA Card Sample | 3 – 4 weeks from sample collection | 2,800.00 AED | Details |
| CD96 Gene C Syndrome NGS Test TEST-3014 LOINC 81261-8 | This test identifies pathogenic variants in the CD96 gene associated with autosomal dominant C syndrome. | Whole blood (EDTA) or dried blood spot (FTA card) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| CDC20 Gene Cell Cycle Disorder Genetic Test TEST-2106 LOINC 21636-6 | This genetic test evaluates the entire coding region of the CDC20 gene for variants associated with cell cycle disorders and cancer. | Peripheral whole blood, extracted DNA, or dried blood spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| CEBPA Gene Somatic Mutation Analysis (NGS) for Acute Myeloid Leukemia (AML) Test TEST-2019 LOINC 69548-6 | This test identifies somatic mutations in the CEBPA gene using Next-Generation Sequencing (NGS) from blood, DNA, or FTA cards. | Whole blood, extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| CENPE Gene Autosomal Recessive Primary Microcephaly Type 13 Genetic Test TEST-2560 LOINC 81319-2 | This test evaluates the CENPE gene for mutations associated with autosomal recessive primary microcephaly type 13. | Peripheral whole blood (3–5 mL in EDTA tube) or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| CFHR3 Gene Hemolytic Uremic Syndrome Genetic Test TEST-3773 LOINC 81439-3 | This test evaluates the CFHR3 gene for mutations associated with atypical Hemolytic Uremic Syndrome (aHUS). It identifies pathogenic variants that dis... | Peripheral Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| CHMP1A Gene Pontocerebellar Hypoplasia Type 8 (PCH8) Genetic Test TEST-5512 LOINC 98052-2 | This test identifies pathogenic variants in the CHMP1A gene associated with Pontocerebellar Hypoplasia Type 8 (PCH8). It uses Next-Generation Sequenci... | Whole Blood (2-3 mL), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| COL11A1 Gene Fibrochondrogenesis Type 1 Genetic Test TEST-2842 LOINC 82161-8 | This genetic test analyzes the COL11A1 gene for pathogenic variants associated with fibrochondrogenesis type 1, a severe skeletal dysplasia. | Whole Blood (Peripheral), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| COX6A1 Gene Genetic Test TEST-4111 LOINC 82939-0 | This test identifies pathogenic variants in the COX6A1 gene associated with mitochondrial complex IV deficiency. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| CSF2RB Gene Surfactant Metabolism Dysfunction Type 5 Genetic Test TEST-5856 LOINC 55233-1 | This genetic test evaluates the CSF2RB gene for pathogenic mutations associated with Surfactant Metabolism Dysfunction Type 5 (pulmonary alveolar prot... | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot | 3 – 4 Weeks | 2,800.00 AED | Details |
| CTSD Gene Ceroid Lipofuscinosis Neuronal Type 10 Genetic Test TEST-6074 LOINC 93476-7 | This genetic test identifies pathogenic variants within the CTSD gene associated with neuronal ceroid lipofuscinosis type 10 (CLN10). | Whole Blood (EDTA), FTA Card Dried Blood Spot, or Extracted DNA | 3 – 4 Weeks | 2,800.00 AED | Details |
| CYP17A1 Genetic Sequencing (NGS) for 17α‑Hydroxylase Deficiency Test TEST-5903 LOINC 21636-6 | This test evaluates the CYP17A1 gene for pathogenic variants associated with 17α‑hydroxylase deficiency, a form of congenital adrenal hyperplasia. | Whole blood (EDTA) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| DARS Gene Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity (Genetic Test) TEST-4627 LOINC 94101-2 | This genetic test identifies mutations and copy number variations within the DARS gene, which are associated with hypomyelination with brainstem and s... | Peripheral whole blood (3–5 ml in EDTA), extracted DNA, or FTA card blood spot | 3–4 weeks | 2,800.00 AED | Details |
| DDOST Gene CDG Type Ir (Genetic Test) TEST-6322 LOINC 92880-1 | This genetic test evaluates the DDOST gene for mutations associated with Congenital Disorder of Glycosylation Type Ir (CDG-Ir). | Whole Blood (EDTA tube), Extracted DNA, or Dried Blood Spot on FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| DLG3 Gene Mental Retardation, X‑Linked Type 90 Genetic Test TEST-5054 LOINC 81261-4 | This genetic test evaluates the DLG3 gene for pathogenic variants associated with X-linked intellectual disability type 90. | Whole blood, DNA FTA card, or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| DUOXA2 Gene Thyroid Dyshormonogenesis Type 5 Genetic Test TEST-3464 LOINC 90037-0 | This test evaluates the DUOXA2 gene for pathogenic variants associated with thyroid dyshormonogenesis type 5. | Peripheral Blood (Venipuncture or Finger-prick on FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| EFNB1 Gene Craniofrontonasal Syndrome Genetic Test TEST-2916 LOINC 21636-6 | This test evaluates the EFNB1 gene for pathogenic variants associated with Craniofrontonasal Syndrome. | Peripheral Whole Blood (EDTA) or FTA Card | 3-4 Weeks | 2,800.00 AED | Details |
| EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly Genetic Test TEST-2624 LOINC 92734-7 | This test identifies pathogenic variants in the EFTUD2 gene, which are associated with Mandibulofacial Dysostosis with Microcephaly (MFDM). | Peripheral whole blood (3–5 mL in K2EDTA tube), extracted genomic DNA, or FTA card blood spot | 3 to 4 weeks | 2,800.00 AED | Details |
| EIF2AK3 Gene Sequencing Test for Wolcott‑Rallison Syndrome TEST-3480 LOINC 69548-6 | This test identifies pathogenic variants in the EIF2AK3 gene, confirming a molecular diagnosis of Wolcott‑Rallison syndrome. | Peripheral whole blood (EDTA) or DNA FTA card | 3–4 weeks (21–28 calendar days) | 2,800.00 AED | Details |
| FGF10 Gene LADD Syndrome Genetic Test TEST-2660 LOINC 82255-5 | This test analyzes the FGF10 gene for pathogenic variants associated with Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome. | Peripheral Whole Blood or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| FGFR1 Gene (Kallmann Syndrome Type 2) Genetic Test TEST-2688 LOINC 77999-5 | This genetic test evaluates the FGFR1 gene for pathogenic variants associated with Kallmann syndrome type 2. | Whole Blood or Buccal Swab | 3 to 4 Weeks | 2,800.00 AED | Details |
| FGFR1 Gene Osteoglophonic Dysplasia Genetic Test TEST-2457 LOINC 92681-3 | This genetic test analyzes the FGFR1 gene for pathogenic variants associated with osteoglophonic dysplasia. | Whole Blood (EDTA), Extracted DNA, or FTA Card (Peripheral Blood) | 3–4 weeks | 2,800.00 AED | Details |
| FKBP10 Gene Osteogenesis Imperfecta Type XI Genetic Test TEST-4729 LOINC 83019-6 | This test evaluates the FKBP10 gene for pathogenic variants associated with Osteogenesis Imperfecta Type XI. | Peripheral whole blood (3–5 mL in EDTA) or FTA card dried blood spots | 3–4 Weeks | 2,800.00 AED | Details |
| FTCD Gene Glutamate Formiminotransferase Deficiency Genetic Test TEST-6396 LOINC 55233-1 | This genetic test analyzes the FTCD gene to identify mutations associated with glutamate formiminotransferase deficiency. | Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| FTSJ1 Gene X-Linked Intellectual Disability Type 44 Genetic Test TEST-4926 LOINC 82939-0 | This test detects pathogenic variants in the FTSJ1 gene, which are associated with X-linked intellectual disability type 44 (XLID44). It utilizes Next... | Whole Blood, Extracted DNA, or DNA FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| G6PC Gene Sequencing for Glycogen Storage Disease Type Ia (GSD-Ia) Test TEST-6378 LOINC 21656-4 | This diagnostic test evaluates the G6PC gene for pathogenic variants associated with Glycogen Storage Disease Type Ia (von Gierke disease). It identif... | Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| G6PC3 Gene Neutropenia (Severe Congenital Type 4, Autosomal Recessive) Genetic Test TEST-4749 LOINC 21633-4 | This genetic test evaluates the G6PC3 gene for pathogenic variants associated with severe congenital neutropenia type 4. | Whole blood (EDTA), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| GABRD Gene Epilepsy, Idiopathic Generalized Type 10 Genetic Test TEST-4426 LOINC 81247-9 | This test evaluates the GABRD gene for pathogenic variants associated with idiopathic generalized epilepsy type 10. | Whole Blood (EDTA) or Saliva | 3 to 4 weeks | 2,800.00 AED | Details |
| GABRG2 Gene Dravet Syndrome Genetic Test TEST-4167 LOINC 101186-7 | This genetic test analyzes the GABRG2 gene to identify variants associated with Dravet syndrome, a severe form of epilepsy. | Whole Blood (1–4 mL EDTA), Extracted DNA, or Dry Blood Spot on FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| GALE Gene Galactose Epimerase Deficiency Genetic Test TEST-6389 LOINC 81247-9 | This genetic test identifies pathogenic variants in the GALE gene associated with galactose epimerase deficiency (galactosemia type III). | Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| GARS1 Gene CMT2D Next‑Generation Sequencing (NGS) Genetic Test TEST-4019 LOINC 95050-2 | This test identifies pathogenic variants in the GARS1 gene associated with Charcot-Marie-Tooth disease type 2D (CMT2D). It uses Next-Generation Sequen... | Peripheral Whole Blood (EDTA), Extracted Genomic DNA, or Dried Blood Spot (FTA Card) | 21–28 Days (3–4 Weeks) | 2,800.00 AED | Details |
| GATA2 Full-Length Gene Sequencing (Chronic Neutropenia, MonoMac Syndrome, Myelodysplasia, AML) Test TEST-1566 LOINC 68880-7 | This test analyzes the entire coding region of the GATA2 gene to detect mutations associated with GATA2 deficiency syndrome. | Venous blood draw or bone marrow aspirate | 15 working days | 3,200.00 AED | Details |
| GATA4 Gene Sequencing Test for Testicular Anomalies and Congenital Heart Disease (NGS) TEST-4134 LOINC 94051-3 | This test evaluates the GATA4 gene for variants associated with testicular anomalies and congenital heart disease. | Peripheral whole blood, extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| GH1 Gene Growth Hormone Deficiency Genetic Test TEST-3829 LOINC 21636-6 | This test sequences the entire GH1 gene to detect pathogenic variants associated with isolated growth hormone deficiency. | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| GJC2 Gene Hereditary Lymphedema Type IC Genetic Test TEST-4810 LOINC 94801-1 | This test identifies pathogenic variants in the GJC2 gene associated with hereditary lymphedema type IC. | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| GJC2 Gene SPG44 Genetic Test TEST-5664 LOINC 21636-6 | This test evaluates the GJC2 gene for pathogenic variants associated with Hereditary Spastic Paraplegia Type 44 (SPG44). It identifies mutations that... | Whole Blood, DNA FTA Card, or Extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| GSTT1 Gene Glutathione S-Transferase Theta-1 Deficiency Genomic Test TEST-6351 LOINC 21636-6 | This test identifies complete deletions of the GSTT1 gene, which can impact detoxification capacity and oxidative stress levels. | Whole Blood (Peripheral Venous) | 3–4 Weeks | 2,800.00 AED | Details |
| GSTZ1 Gene Tyrosinemia Type 1B Genetic Test TEST-5768 LOINC 92868-6 | This genetic test identifies pathogenic variants in the GSTZ1 gene associated with Tyrosinemia Type 1B. | Peripheral whole blood (EDTA) or genomic DNA extracted from blood | 3 – 4 Weeks | 2,800.00 AED | Details |
| HADHB Gene Trifunctional Protein Deficiency Genetic Test TEST-3495 LOINC 94222-7 | This genetic test evaluates the HADHB gene for pathogenic variants associated with mitochondrial trifunctional protein deficiency. | Peripheral whole blood (EDTA) or buccal swab | 3–4 Weeks | 2,800.00 AED | Details |
| HESX1 Gene Sequencing for Septo‑Optic Dysplasia Test TEST-2340 LOINC 81326-7 | This test identifies mutations in the HESX1 gene, providing a definitive molecular diagnosis for Septo-Optic Dysplasia (SOD). | Peripheral venous whole blood | 21–28 working days (3–4 weeks) | 2,800.00 AED | Details |
| HNRNPU Gene RNA Processing‑Related Disorders Genetic Test TEST-2396 LOINC 95424-2 | This test sequences the HNRNPU gene and its RNA transcripts to detect variants associated with intellectual disability, epilepsy, and syndromic dysmor... | Peripheral Whole Blood | 3–4 weeks | 2,800.00 AED | Details |
| HSD17B3 Gene Genetic Test for Pseudohermaphroditism with Gynecomastia TEST-3417 LOINC 21669-6 | This test identifies pathogenic variants in the HSD17B3 gene, which are associated with 46,XY disorder of sex development (DSD) presenting as pseudohe... | Whole blood (2 mL EDTA), extracted DNA, or FTA card specimen | 3 – 4 Weeks | 2,800.00 AED | Details |
| IBA57 Gene (Spastic Paraplegia Type 74) Autosomal Recessive Genetic Test TEST-5713 LOINC 81328-4 | This genetic test analyzes the IBA57 gene to detect mutations associated with autosomal recessive spastic paraplegia type 74 (SPG74). It identifies pa... | Peripheral whole blood (3–5 mL in EDTA tube) or extracted DNA / dried blood spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| IL12RB1 Gene Sequencing for Atypical Mycobacterial Infection (MSMD) Test TEST-5344 LOINC 83520-5 | This test identifies pathogenic variants in the IL12RB1 gene associated with Mendelian Susceptibility to Mycobacterial Disease (MSMD). | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| ITGB2 Gene Leukocyte Adhesion Deficiency (LAD) Genetic Test TEST-6071 LOINC 94710-5 | This genetic test evaluates the ITGB2 gene for pathogenic variants associated with Leukocyte Adhesion Deficiency type 1 (LAD-1). It provides a definit... | Whole Blood (EDTA) or Buccal Swab / FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| JAG2 Gene Sequencing Test for Craniofacial and Neurodevelopmental Abnormalities TEST-2920 LOINC 51966-0 | This test identifies pathogenic variants in the JAG2 gene, associated with Alagille syndrome type 2 and related craniofacial dysmorphism syndromes. | Whole blood or dried blood spot (FTA) | 3–4 Weeks | 2,800.00 AED | Details |
| JAK3 Gene Sequencing for SCID (T-Negative, B-Positive) Test TEST-3177 LOINC 94054-7 | This test identifies pathogenic variants in the JAK3 gene, confirming a diagnosis of autosomal recessive SCID with a T-negative, B-positive phenotype. | Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| KRT10 Gene Epidermolytic Hyperkeratosis Genetic Test TEST-5135 LOINC 21663-7 | This test identifies pathogenic variants in the KRT10 gene associated with epidermolytic hyperkeratosis. | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| KRT5 Gene Epidermolysis Bullosa Simplex Genetic Test TEST-5131 LOINC 81293-1 | This genetic test identifies pathogenic variants in the KRT5 gene associated with Epidermolysis Bullosa Simplex. | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3 – 4 Weeks | 2,800.00 AED | Details |
| LCAT Gene Fish-Eye Disease Genetic Test TEST-6298 LOINC 81247-9 | This genetic test identifies pathogenic variants in the LCAT gene associated with fish-eye disease and LCAT deficiency. | Peripheral whole blood (EDTA) or FTA card capillary blood | 3–4 Weeks | 2,800.00 AED | Details |
| LINS1 Gene Sequencing (NGS) for Intellectual Disability Type 27 Test TEST-4863 LOINC 81251-6 | This test identifies genetic variants in the LINS1 gene associated with intellectual disability type 27. | Peripheral Whole Blood | 21–28 Business Days | 2,800.00 AED | Details |
| LPIN2 Gene Majeed Syndrome Genetic Test TEST-4806 LOINC 92708-8 | This test evaluates the LPIN2 gene for mutations associated with Majeed syndrome. | Whole blood (EDTA) or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| LRIG2 Gene Urofacial Syndrome Genetic Test TEST-2220 LOINC 50121-7 | This test analyzes the LRIG2 gene for pathogenic variants associated with urofacial syndrome (Ochoa syndrome). It identifies single nucleotide variant... | Peripheral whole blood (EDTA) or FTA card spot | 3–4 weeks | 2,800.00 AED | Details |
| MAN2B1 Gene Alpha-Mannosidosis Genetic Test TEST-6097 LOINC 51954-0 | This test evaluates the MAN2B1 gene for pathogenic variants associated with Alpha-Mannosidosis. | Peripheral whole blood (EDTA tube) or DNA from FTA card | 3–4 weeks | 2,800.00 AED | Details |
| MBL2 Gene Mannose-Binding Protein Deficiency Genetic Test TEST-6101 LOINC 81351-9 | This genetic test identifies pathogenic variants in the MBL2 gene associated with mannose-binding protein deficiency. | Whole Blood, Extracted DNA, or FTA Card Blood Spot (Peripheral Blood) | 3 to 4 Weeks | 2,800.00 AED | Details |
| MECP2 Gene (Autism Susceptibility, X-Linked Type 3) Genetic Test TEST-3873 LOINC 21637-9 | This test evaluates the MECP2 gene for mutations associated with Rett syndrome, autism susceptibility, and X-linked intellectual disability. | Peripheral blood (EDTA whole blood) or extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC) Gene Sequencing Test TEST-2763 LOINC 81247-7 | This test identifies pathogenic variants in the MLC1 and GLIALCAM genes associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts (ML... | Whole blood (10 mL, min. 5 mL) in two Lavender Top EDTA tubes | 40 working days | 2,600.00 AED | Details |
| MMP13 Gene Metaphyseal Anadysplasia Type 1 Genetic Test TEST-2590 LOINC 48018-6 | This test identifies pathogenic variants within the MMP13 gene associated with metaphyseal anadysplasia type 1. | Peripheral whole blood (EDTA) or FTA card | 3 to 4 weeks | 2,800.00 AED | Details |
| MPL Gene Congenital Amegakaryocytic Thrombocytopenia (CAMT) NGS Test TEST-3153 LOINC 81247-9 | This test identifies pathogenic variants in the MPL gene associated with Congenital Amegakaryocytic Thrombocytopenia (CAMT). | Peripheral Whole Blood (DNA Extraction) | 3–4 Weeks | 2,800.00 AED | Details |
| MSX2 Gene Parietal Foramina Type 1 Genetic Test TEST-2444 LOINC 51966-2 | This test identifies pathogenic mutations within the MSX2 gene associated with parietal foramina type 1. | Whole blood (EDTA) or FTA card finger-prick | 3–4 weeks | 2,800.00 AED | Details |
| MT-ND5 Gene Genetic Test for Leigh Syndrome (Mitochondrial Complex I Deficiency) TEST-4656 LOINC 93634-8 | This test identifies pathogenic variants within the MT-ND5 gene, which are associated with Leigh syndrome due to mitochondrial complex I deficiency. | Peripheral whole blood (EDTA) or DNA sample (FTA card acceptable) | 3–4 weeks | 2,800.00 AED | Details |
| MVK Gene Mevalonic Aciduria Genetic Test TEST-6030 LOINC 81278-8 | This test analyzes the MVK gene for pathogenic variants associated with mevalonate kinase deficiency (mevalonic aciduria). It provides a definitive mo... | Whole blood, extracted DNA, or FTA card (dried blood spot) | 3–4 Weeks | 2,800.00 AED | Details |
| MYH11 Gene Familial Thoracic Aortic Aneurysm Type 4 Genetic Test TEST-4101 LOINC 84388-5 | This genetic test evaluates the MYH11 gene for pathogenic variants linked to familial thoracic aortic aneurysm type 4. | Whole Blood (EDTA), FTA Card, or Extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| MYH9 Gene (Epstein Syndrome) Genetic Test TEST-3883 LOINC 90231-5 | This test sequences the entire MYH9 gene to detect pathogenic variants associated with Epstein syndrome and related inherited conditions. | Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| NCF1 Gene Chronic Granulomatous Disease (Cytochrome b-Positive, Type 1) Genetic Test TEST-2054 LOINC 21649-1 | This genetic test analyzes the NCF1 gene to detect pathogenic variants associated with autosomal recessive Chronic Granulomatous Disease (CGD) type 1. | Peripheral whole blood or FTA card dried blood spot | 3 – 4 Weeks | 2,800.00 AED | Details |
| NGS Albinism Test TEST-2703 LOINC 20865-3 | This diagnostic test evaluates for pathogenic variants in 19+ genes associated with oculocutaneous and syndromic albinism using Next-Generation Sequen... | Peripheral Whole Blood | 45 working days (expedited reporting available) | 3,200.00 AED | Details |
| NLGN3 Gene Autism Susceptibility, X-Linked Type 1 Genetic Test TEST-3895 LOINC 96981-1 | This genetic test evaluates the NLGN3 gene for pathogenic variants associated with X-linked autism spectrum disorder. | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| NR5A1 Gene (SPGF8) Genetic Test TEST-3370 LOINC 90372-6 | This test evaluates the NR5A1 gene for variants associated with reproductive disorders. | Whole Blood (EDTA) or Whatman FTA Card | 3 to 4 weeks | 2,800.00 AED | Details |
| NUBPL Gene Leigh Syndrome Genetic Test TEST-4732 LOINC 69261-4 | This test evaluates the NUBPL gene for mutations associated with Leigh syndrome. | Peripheral Blood (3–5 mL) or Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| OFD1 Gene Joubert Syndrome Type 10 Genetic Test TEST-4570 LOINC 82294-1 | This test evaluates the OFD1 gene for variants associated with Joubert syndrome type 10 (JBTS10) and related ciliopathies. | Whole blood (EDTA), extracted DNA, or FTA card | 3–4 weeks (expedited available) | 2,800.00 AED | Details |
| PDGFRA Gene Selective Sequencing of Exons 12, 14, and 18 (NGS) Test TEST-1940 LOINC 93223-7 | This diagnostic test evaluates for specific mutations within exons 12, 14, and 18 of the PDGFRA gene. | Whole blood, Extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| PFKM Gene Glycogen Storage Disease Type VII (Tarui Disease) Genetic Test TEST-6372 LOINC 92822-6 | This test identifies pathogenic variants in the PFKM gene associated with Glycogen Storage Disease Type VII (Tarui disease). It confirms the molecular... | Peripheral Whole Blood or Extracted DNA | 21–28 Days | 2,800.00 AED | Details |
| PGK1 Gene Phosphoglycerate Kinase 1 Deficiency Genetic Test TEST-5567 LOINC 21636-6 | This test evaluates the PGK1 gene for pathogenic variants associated with phosphoglycerate kinase 1 deficiency. | Peripheral Whole Blood or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| PHKA1 Gene Muscle Glycogenosis Genetic Test TEST-5924 LOINC 94830-8 | This genetic test evaluates the PHKA1 gene for pathogenic variants associated with muscle glycogenosis (glycogen storage disease type IXa). It identif... | Whole blood, extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| PIGA Gene Early Infantile Epileptic Encephalopathy Type 20 Genetic Test TEST-4246 LOINC 81409-8 | This genetic test identifies pathogenic variants in the PIGA gene associated with Early Infantile Epileptic Encephalopathy Type 20 (EIEE20). | Peripheral Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| PIGT Gene Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 Genetic Test TEST-5228 LOINC 94222-7 | This test evaluates the PIGT gene for pathogenic variants associated with Multiple Congenital Anomalies–Hypotonia–Seizures Syndrome Type 3 (MCAHS3). I... | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| PITX3 Gene Anterior Segment Mesenchymal Dysgenesis (ASMD) Genetic Test TEST-3483 LOINC 21634-7 | This test evaluates the PITX3 gene for pathogenic variants associated with anterior segment mesenchymal dysgenesis (ASMD) and related congenital eye a... | Peripheral Whole Blood (EDTA) | 3 to 4 Weeks | 2,800.00 AED | Details |
| PLCE1 Gene (Nephrotic Syndrome Type 3) Genetic Test TEST-3593 LOINC 81269-6 | This genetic test identifies pathogenic variants in the PLCE1 gene, which are associated with autosomal recessive nephrotic syndrome type 3. | Peripheral Whole Blood (EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| POGZ Gene Sequencing (Mental Retardation, Autosomal Dominant Type 37) Test TEST-4941 LOINC 94896-4 | This test detects pathogenic variants in the POGZ gene associated with autosomal dominant mental retardation type 37 (MRD37). | Whole Blood (3-5 mL in EDTA tube) or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| POLG Gene MNGIE Without Leukoencephalopathy Genetic Test TEST-5119 LOINC 21636-6 | This test evaluates the entire POLG gene for pathogenic variants associated with Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) without le... | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| PPARG Gene Carotid Intimal Medial Thickness Type 1 Genetic Test TEST-4023 LOINC 81497-9 | This genetic test evaluates variants in the PPARG gene associated with increased risk for atherosclerosis and carotid intimal-medial thickness. | Whole Blood (EDTA tube), Extracted DNA, or Finger-Prick Blood on FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| PRKAR1A Gene Carney Complex Type 1 Genetic Test TEST-2135 LOINC 82941-0 | This test evaluates the PRKAR1A gene for pathogenic variants associated with Carney Complex Type 1. | Peripheral Whole Blood (3–5 mL in EDTA tube) or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| PRPS1 Gene Phosphoribosylpyrophosphate Synthetase Superactivity Genetic Test TEST-5943 LOINC 81318-5 | This genetic test identifies pathogenic variants in the PRPS1 gene associated with phosphoribosylpyrophosphate synthetase superactivity. | Whole Blood / Extracted DNA / FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| PSPH Gene Phosphoserine Phosphatase Deficiency Genetic Test TEST-5940 LOINC 82289-0 | This test detects pathogenic variants in the PSPH gene associated with phosphoserine phosphatase deficiency. | Whole blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| PTCH1 Gene (Gorlin Syndrome/Basal Cell Nevus Syndrome) Genetic Test TEST-2165 LOINC 82901-2 | This genetic test evaluates the PTCH1 gene for mutations associated with Gorlin syndrome (Basal Cell Nevus Syndrome), a hereditary cancer predispositi... | Peripheral Whole Blood or Saliva | 3–4 Weeks | 2,800.00 AED | Details |
| PTCH1 Gene Sequencing (Basal Cell Nevus Syndrome) Test TEST-3076 LOINC 21636-6 | This test evaluates the PTCH1 gene for pathogenic variants associated with Gorlin syndrome (basal cell nevus syndrome). It utilizes Next-Generation Se... | Whole blood (4 mL EDTA), extracted DNA, or dried blood spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| PTPN11 Gene Noonan Syndrome Type 1 Genetic Test TEST-2499 LOINC 94833-5 | This test identifies pathogenic variants in the PTPN11 gene associated with Noonan syndrome type 1. | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| ROBO2 Gene Vesicoureteral Reflux Type 2 Genetic Test TEST-3489 LOINC 57691-9 | This test evaluates the ROBO2 gene for pathogenic variants associated with congenital vesicoureteral reflux type 2. | Peripheral whole blood (3–5 mL EDTA) or FTA card finger‑prick | 3–4 weeks | 2,800.00 AED | Details |
| RSPH1 Gene Primary Ciliary Dyskinesia Type 24 DNA Test (NGS) TEST-5557 LOINC 81313-7 | This diagnostic test evaluates the RSPH1 gene for mutations associated with Primary Ciliary Dyskinesia type 24. | Whole Blood / Extracted DNA / FTA Card (1 drop) | 3–4 Weeks | 2,800.00 AED | Details |
| SAR1B Gene (Chylomicron Retention Disease) Genetic Test TEST-6210 LOINC 95815-3 | This genetic test identifies pathogenic variants in the SAR1B gene associated with chylomicron retention disease (Anderson disease). | Peripheral whole blood (or FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| SCARB2 Gene Epilepsy, Progressive Myoclonic Type 4, With or Without Renal Failure Genetic Test TEST-4440 LOINC 81247-9 | This genetic test analyzes the SCARB2 gene to diagnose Progressive Myoclonus Epilepsy Type 4 (PME4) and assess associated kidney disease risk. | Whole blood (3–5 mL EDTA), extracted DNA, or dried blood spot on FTA card | 3–4 weeks | 2,800.00 AED | Details |
| SCN9A Gene Sequencing for Insensitivity to Pain (Channelopathy‑Associated) Test TEST-4635 LOINC 82939-0 | This test evaluates the SCN9A gene for mutations associated with congenital insensitivity to pain (CIP) and related channelopathies. | Peripheral Whole Blood or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| SETX Gene Ataxia-Oculomotor Apraxia Type 2 Genetic Test TEST-3834 LOINC 94206-2 | This genetic test identifies pathogenic variants within the SETX gene, confirming a diagnosis of ataxia-oculomotor apraxia type 2 (AOA2). | Whole Blood (Lavender Top EDTA Tube) or Dried Blood Spot (DBS) Card | 21–28 Business Days | 2,800.00 AED | Details |
| SFTPC Gene Genetic Test for Surfactant Metabolism Dysfunction Type 2 TEST-5802 LOINC 82314-5 | This test evaluates the SFTPC gene for pathogenic variants associated with pulmonary surfactant metabolism dysfunction type 2 (SMDP2). | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 12–15 Business Days (Standard) / 5–7 Business Days (Express) | 2,800.00 AED | Details |
| SH3PXD2B Gene (Frank-ter Haar Syndrome) Genetic Test TEST-5064 LOINC 55233-1 | This genetic test identifies pathogenic variants in the SH3PXD2B gene to diagnose Frank-ter Haar syndrome. | Whole Blood (EDTA), FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| SHANK2 Gene (Autism Susceptibility, X-Linked Type 17) NGS Test TEST-3867 LOINC 76067-3 | This diagnostic test evaluates the entire coding region of the SHANK2 gene for variants associated with X-linked autism susceptibility type 17. | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| SLC10A2 Gene Primary Bile Acid Malabsorption Genetic Test TEST-6027 LOINC 92084-0 | This test evaluates the SLC10A2 gene for mutations associated with primary bile acid malabsorption. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| SLC12A3 Gene Bartter Syndrome Genetic Test TEST-3881 LOINC 101372-3 | This genetic test evaluates the SLC12A3 gene for pathogenic variants associated with Bartter syndrome. | Peripheral Whole Blood | 21–28 Days | 2,800.00 AED | Details |
| SLC27A4 Gene Ichthyosis Prematurity Syndrome Genetic Test TEST-4987 LOINC 90225-7 | This genetic test identifies pathogenic variants in the SLC27A4 gene associated with Ichthyosis Prematurity Syndrome (IPS). It analyzes the entire cod... | Whole blood (EDTA), extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| SLC35A1 Gene Sequencing Test for Congenital Disorder of Glycosylation Type 2F (NGS) TEST-6340 LOINC 51904-2 | This test identifies pathogenic variants in the SLC35A1 gene associated with Congenital Disorder of Glycosylation Type 2F. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| SLC35C1 Gene Glycosylation Disorder Type 2C Genetic Test TEST-6285 LOINC 94219-3 | This test evaluates the SLC35C1 gene for pathogenic variants associated with Congenital Disorder of Glycosylation Type IIc (CDG IIc). It uses Next-Gen... | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| SMAD6 Gene Aortic Valve Disease Type 2 Test TEST-4046 LOINC 21636-6 | This genetic test evaluates the SMAD6 gene for variants associated with aortic valve disease type 2 and thoracic aortic aneurysms. | Peripheral Whole Blood | 3 – 4 Weeks | 2,800.00 AED | Details |
| SMARCA1 Gene X‑Linked Mental Retardation Genetic Test TEST-4790 LOINC 94727-5 | This test identifies pathogenic variants within the SMARCA1 gene associated with X-linked intellectual disability. | Peripheral whole blood, FTA card, or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| SRY Gene 46,XX Sex Reversal Type 1 (NGS) Test TEST-3476 LOINC 21642-1 | This diagnostic test evaluates for pathogenic variants within the SRY gene, which are the primary cause of 46,XX sex reversal type 1. | Peripheral Whole Blood (EDTA) or Buccal Swab | 21–28 Days | 2,800.00 AED | Details |
| SSR4 Gene X-Linked Congenital Disorder of Glycosylation (CDG) Genetic Test TEST-6259 LOINC 91247-1 | This genetic test analyzes the SSR4 gene to detect mutations causing X-linked congenital disorder of glycosylation (CDG type Iy). It identifies single... | Peripheral Whole Blood (3 mL EDTA) or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| STAT5B Gene Sequencing (Growth Hormone Insensitivity with Immunodeficiency) Test TEST-3824 LOINC 55231-4 | This test identifies pathogenic variants within the STAT5B gene, which are associated with growth hormone insensitivity and severe immunodeficiency. | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| STIL Gene Autosomal Recessive Primary Microcephaly Type 7 (MCPH7) Genetic Test TEST-2555 LOINC 79714-0 | This test identifies pathogenic variants in the STIL gene associated with autosomal recessive primary microcephaly type 7 (MCPH7). | Whole Blood (EDTA) or FTA Card (Dried Blood Spot) | 21–28 Business Days | 2,800.00 AED | Details |
| STRC Gene Deafness and Male Infertility Genetic Test TEST-3465 LOINC 81247-9 | This genetic test evaluates the STRC gene for pathogenic variants associated with autosomal recessive non-syndromic hearing loss and male infertility. | Peripheral Whole Blood, Extracted DNA, or FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| SUMF1 Gene Sulfatase Deficiency Genetic Test TEST-5808 LOINC 94222-8 | This genetic test evaluates the SUMF1 gene for pathogenic variants associated with Multiple Sulfatase Deficiency (MSD). It identifies mutations, delet... | Peripheral whole blood (5 ml in EDTA tube) or Buccal Swab | 3–4 weeks | 2,800.00 AED | Details |
| TANC1 Gene Psychomotor Retardation Genetic Test TEST-5636 LOINC 10213-6 | This genetic test identifies pathogenic variants in the TANC1 gene, which are associated with autosomal dominant psychomotor retardation. | Whole blood, extracted DNA, or dried blood spot (FTA card) | 3 – 4 Weeks | 2,800.00 AED | Details |
| TGFBR2 Gene Loeys-Dietz Syndrome Type 1B Genetic Test TEST-4837 LOINC 82771-1 | This test identifies pathogenic variants in the TGFBR2 gene associated with Loeys-Dietz syndrome type 1B. | Peripheral Whole Blood (Venous or FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| TIMM8A Gene Jensen Syndrome Genetic Test TEST-4567 LOINC 81247-1 | This genetic test identifies disease-causing mutations in the TIMM8A gene associated with Jensen syndrome. | Peripheral Whole Blood (or DNA‑stabilised FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| TMCO1 Gene Sequencing (NGS) Test TEST-5251 LOINC 94222-5 | This test identifies pathogenic variants in the TMCO1 gene, which are associated with a specific syndrome characterized by craniofacial dysmorphism, s... | Whole Blood (EDTA) or Saliva (Oragene®) | 21–28 days | 2,800.00 AED | Details |
| TMEM165 Gene CDG Type 2K Genetic Test TEST-6268 LOINC 81799-6 | This test identifies pathogenic variants in the TMEM165 gene, confirming a diagnosis of Congenital Disorder of Glycosylation Type 2K (CDG-IIK). | Peripheral Whole Blood (EDTA) or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| TNFRSF11A Gene: Familial Expansile Osteolysis Test TEST-4687 LOINC 78337-6 | This test identifies mutations in the TNFRSF11A gene associated with familial expansile osteolysis. | Whole Blood (Peripheral) | 3 – 4 Weeks | 2,800.00 AED | Details |
| TNNT3 Gene (Arthrogryposis, Distal, Type 2B) Genetic Test TEST-5372 LOINC 81316-3 | This genetic test evaluates the TNNT3 gene for pathogenic variants associated with distal arthrogryposis type 2B. | Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| TRMU Gene Transient Infantile Liver Failure Genetic Test TEST-3658 LOINC 94219-0 | This test detects pathogenic variants in the TRMU gene associated with transient infantile liver failure using next-generation sequencing. | Whole blood (EDTA) or FTA card blood spot | 3–4 weeks | 2,800.00 AED | Details |
| USB1 Gene Poikiloderma with Neutropenia (Clericuzio Type) Genetic Test TEST-4648 LOINC 81272-4 | This genetic test analyzes the USB1 gene to identify pathogenic variants associated with Clericuzio-type poikiloderma with neutropenia. | 3 mL peripheral whole blood in EDTA (purple-top) tube | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 Genetic Test TEST-6247 LOINC 95209-3 | This test identifies pathogenic variants in the VARS2 gene, which are associated with combined oxidative phosphorylation deficiency type 20. | Whole Blood (EDTA) | 3–4 weeks | 2,800.00 AED | Details |
| VDAC1 Gene Mitochondrial Encephalopathy Genetic Test TEST-4372 LOINC 93306-2 | This test identifies pathogenic variants in the VDAC1 gene, which are associated with mitochondrial encephalopathy. | Whole Blood (EDTA tube, 3–5 mL) or Dried Blood Spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| VPS13A Gene Choreoacanthocytosis Genetic Test TEST-4049 LOINC 48834-2 | This genetic test evaluates the VPS13A gene for mutations associated with choreoacanthocytosis. | Whole blood (3–5 mL in EDTA) or extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| WDR11 Gene Hypogonadotropic Hypogonadism Type 14 Genetic Test TEST-3402 LOINC 81222-9 | This genetic test identifies mutations in the WDR11 gene associated with hypogonadotropic hypogonadism type 14. | Peripheral whole blood or buccal swab | 3–4 weeks | 2,800.00 AED | Details |
| WDR60 Gene Short‑Rib Thoracic Dysplasia Type 8 with or without Polydactyly Genetic Test TEST-2297 LOINC 59409-2 | This genetic test identifies pathogenic variants in the WDR60 gene associated with Short‑Rib Thoracic Dysplasia type 8 (SRTD8). | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| WFS1 Gene (Cataract Type 41) Genetic Test TEST-3534 LOINC 21662-0 | This test evaluates the WFS1 gene for pathogenic variants associated with autosomal recessive cataracts type 41 and Wolfram syndrome. | Whole blood (EDTA tube) or FTA card (dried blood spot) | 3–4 Weeks (expedited 2-week option available) | 2,800.00 AED | Details |
Clinical overview
About Gene Sequencing
Achieving a definitive diagnosis for a complex or rare genetic disorder often requires reading the entire genetic code of specific genes to find elusive, hidden errors. As a cornerstone of our advanced Genetics services, Gene Sequencing expansively scans the targeted regions of your genome to uncover rare or novel mutations that standard tests miss. Utilizing state-of-the-art sequencing technology, this comprehensive molecular profiling delivers the critical data necessary to safely guide your healthcare provider in tailoring highly personalized medical management and targeted therapeutic interventions. Trusted for molecular excellence among premier diagnostic labs in the UAE, DNA Labs ensures absolute patient confidentiality, exceptional analytical precision, and remarkably fast reporting. Find the clear, definitive answers you need—schedule your gene sequencing testing in UAE, coordinate a seamless clinical sample transfer, or consult our expert medical genetics professionals today.
Before your appointment
Preparation & sample collection
Follow the instructions you are given
Fasting, timing and medicine restrictions differ between investigations. The instructions for your specific request are confirmed when you book.
Bring your identification
A valid photo ID is required at collection so that your sample is matched correctly to your record.
Tell us about medicines
Prescription medicines, supplements and recent procedures can affect how an investigation is scheduled or interpreted — please mention them.
Ask before collection
If anything about preparation is unclear, contact us before your appointment. Preparation errors can affect reporting times.
Patient information
Frequently asked questions
Practical answers about Gene Sequencing testing at DNA Labs UAE. This information is general and does not replace advice from your treating clinician.
How do I choose the right Gene Sequencing 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 Gene Sequencing 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 Gene Sequencing 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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