Genetics
Genetic 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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Genetic Sequencing investigations
All 256 investigations in this category are listed below.
| Test | What it measures | Specimen | Turnaround | Price | Book |
|---|---|---|---|---|---|
| 4H Syndrome Genetic Sequencing Test TEST-2712 LOINC 51961-7 | This test identifies genetic variants associated with 4H Syndrome, a rare disorder characterized by hypomyelination, hypodontia, and hypogonadotropic... | Whole Blood | 40 working days | 2,600.00 AED | Details |
| AASS Gene Saccharopinuria Genetic Test TEST-5892 LOINC 55233-1 | This genetic test identifies pathogenic variants in the AASS gene, which are responsible for causing saccharopinuria, a rare inherited metabolic disor... | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| ABCB4 Gene (Intrahepatic Cholestasis of Pregnancy Type 3) Next‑Generation Sequencing (Genetic Test TEST-6100 LOINC 21671-4 | This genetic test analyzes the ABCB4 gene for pathogenic variants causing intrahepatic cholestasis of pregnancy type 3 (ICP3). It detects single nucle... | Whole Blood (Peripheral Venous) | 3–4 Weeks | 2,800.00 AED | Details |
| ACTA1 Gene Myopathy (Scapulohumeroperoneal) Genetic Test TEST-5272 LOINC 21636-6 | This genetic test identifies mutations in the ACTA1 gene associated with autosomal dominant scapulohumeroperoneal myopathy. | Peripheral whole blood (EDTA tube, 4 ml) | 3–4 weeks | 2,800.00 AED | Details |
| AICDA Gene (Immunodeficiency with Hyper-IgM Type 2) Genetic Test TEST-4909 LOINC 55176-5 | This test evaluates the AICDA gene for pathogenic variants associated with Hyper-IgM syndrome type 2, a primary immunodeficiency. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| AKR1C4 Gene Sequencing (46,XY Sex Reversal Type 8 Modifier) Test TEST-3436 LOINC 55233-1 | This test evaluates the AKR1C4 gene for pathogenic variants associated with 46,XY sex reversal type 8. | Peripheral whole blood | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| AKT3 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Type 2 Genetic Test TEST-2607 LOINC 21636-2 | This genetic test identifies pathogenic variants in the AKT3 gene associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Typ... | Peripheral Whole Blood (2–3 mL, EDTA tube or DNA FTA card) | 3 to 4 weeks | 2,800.00 AED | Details |
| ALDH5A1 Gene Succinic Semialdehyde Dehydrogenase Deficiency Genetic Test TEST-5877 LOINC 90521-1 | This genetic test identifies mutations in the ALDH5A1 gene responsible for succinic semialdehyde dehydrogenase (SSADH) deficiency. | Peripheral whole blood (EDTA tube) | 3 to 4 weeks | 2,800.00 AED | Details |
| ALG8 Gene (Congenital Disorder of Glycosylation Type Ih) Genetic Test TEST-6309 LOINC 96021-5 | This genetic test identifies inherited mutations in the ALG8 gene associated with Congenital Disorder of Glycosylation Type Ih (CDG-1h). | Whole Blood (Venipuncture or FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| ALX4 Gene Parietal Foramina Type 2 Genetic Test TEST-5504 LOINC 81247-9 | This genetic test evaluates the ALX4 gene for pathogenic mutations associated with parietal foramina type 2 (PFM2). | Whole blood (EDTA), extracted genomic DNA, or dried blood spot on FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| AP1S1 Gene MEDNIK Syndrome Genetic Test TEST-4786 LOINC 78126-8 | This test detects pathogenic variants in the AP1S1 gene associated with MEDNIK syndrome. | Whole blood (EDTA tube) or buccal swab | 3–4 Weeks (Expedited) | 2,800.00 AED | Details |
| APOA1 Gene Hypoalphalipoproteinemia Genetic Test TEST-6132 LOINC 93977-2 | This genetic test identifies pathogenic variants in the APOA1 gene associated with primary hypoalphalipoproteinemia. | Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Dried Blood Spot | 3 – 4 Weeks | 2,800.00 AED | Details |
| APOE Gene Analysis for Sea-Blue Histiocyte Disease (Genetic Test) TEST-3205 LOINC 21605-8 | This test evaluates the entire APOE gene for pathogenic mutations linked to Sea-Blue Histiocyte Disease. | Peripheral Whole Blood (FTA card or venous draw) | 3 to 4 Weeks | 2,800.00 AED | Details |
| APTX Gene Ataxia-Oculomotor Apraxia Type 1 (AOA1) Genetic Test TEST-3860 LOINC 82932-1 | This genetic test evaluates the APTX gene for pathogenic variants associated with Ataxia-Oculomotor Apraxia Type 1 (AOA1). It identifies single-nucleo... | Whole Blood (Peripheral) | 3 to 4 Weeks | 2,800.00 AED | Details |
| AQP2 Gene (Nephrogenic Diabetes Insipidus, Autosomal) Genetic Test TEST-3847 LOINC 90219-3 | This test identifies genetic mutations in the AQP2 gene associated with hereditary nephrogenic diabetes insipidus. | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| ARNT2 Gene Webb‑Dattani Syndrome Genetic Test TEST-2183 LOINC 82669-0 | This diagnostic test evaluates the ARNT2 gene for pathogenic variants associated with Webb‑Dattani syndrome. | Peripheral blood (EDTA), Saliva (Oragene), or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| ARSB Gene Mucopolysaccharidosis Type 6 Genetic Test TEST-5984 LOINC 94044-9 | This test identifies pathogenic variants in the ARSB gene associated with Mucopolysaccharidosis Type 6 (Maroteaux-Lamy syndrome). It uses next-generat... | Peripheral Blood, Extracted DNA, or FTA Card (Finger-prick) | 3–4 Weeks | 2,800.00 AED | Details |
| Ataxia-Telangiectasia Genetic Testing (NGS with Sanger Confirmation) Test TEST-2727 LOINC 92041-1 | This test identifies pathogenic variants in the ATM gene, confirming a diagnosis of Ataxia-Telangiectasia. | Peripheral whole blood (Lavender-top EDTA tubes) | 40 working days | 2,600.00 AED | Details |
| ATL3 Gene Hereditary Sensory Neuropathy Type 1F (HSN1F) Genetic Test TEST-5381 LOINC 82287-9 | This test identifies pathogenic variants in the ATL3 gene associated with Hereditary Sensory Neuropathy Type 1F (HSN1F). It uses Next-Generation Seque... | Whole blood (EDTA), extracted DNA, or FTA card | 3 to 4 weeks | 2,800.00 AED | Details |
| ATP7A Gene Menkes Disease Genetic Test TEST-3679 LOINC 101717-5 | This genetic test evaluates the ATP7A gene for mutations associated with Menkes disease. | Peripheral Whole Blood (also accepted: Dried Blood Spot on FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| ATP7A Gene Spinal Muscular Atrophy, Distal, X-linked DNA Test (NGS) TEST-5835 LOINC 82335-1 | This diagnostic test evaluates the ATP7A gene for pathogenic variants associated with X-linked distal spinal muscular atrophy (SMAX2). It identifies s... | Peripheral Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| ATP8A2 Gene Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 (CAMRQ4) Genetic Test TEST-4021 LOINC 81313-4 | This genetic test evaluates the ATP8A2 gene for pathogenic variants associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome... | Peripheral whole blood (EDTA) or saliva | 3–4 weeks | 2,800.00 AED | Details |
| ATP8B1 Gene Sequencing for Benign Recurrent Intrahepatic Cholestasis (BRIC) Test TEST-6107 LOINC 55233-1 | This test identifies pathogenic variants in the ATP8B1 gene associated with benign recurrent intrahepatic cholestasis (BRIC). | Peripheral blood (EDTA whole blood) | 3–4 Weeks | 2,800.00 AED | Details |
| ATRIP Gene Seckel Syndrome Genetic Test TEST-2348 LOINC 92895-0 | This genetic test detects pathogenic variants in the ATRIP gene associated with Seckel syndrome. | Peripheral Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| ATRX Gene (X‑Linked Intellectual Disability with Hypotonic Facies Syndrome) Genetic Test TEST-4787 LOINC 96536-3 | This test identifies pathogenic variants, including single-nucleotide variants, indels, and copy-number changes, within the entire coding region of th... | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| ATRX Gene Alpha‑Thalassemia/Mental Retardation Syndrome Genetic Test TEST-3084 LOINC 81170-3 | 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 tube), Extracted DNA, or FTA Card (one drop) | 3-4 weeks from sample receipt | 2,800.00 AED | Details |
| BAG3 Gene Myopathy (Myofibrillar Myopathy Type 6) Genetic Test TEST-5266 LOINC 48019-2 | This genetic test detects mutations in the BAG3 gene associated with Myofibrillar Myopathy Type 6. | Peripheral whole blood (EDTA), extracted DNA, or FTA card | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| BCL9L Gene Heterotaxy, Visceral, BCL9L Related Genetic Test TEST-2770 LOINC 104143-7 | This genetic test analyzes the BCL9L gene for pathogenic variants associated with visceral heterotaxy and congenital laterality defects. | Peripheral Whole Blood | 3 to 4 Weeks | 2,800.00 AED | Details |
| BMPR1A Gene Juvenile Polyposis Syndrome Genetic Test TEST-2034 LOINC 21636-6 | This test evaluates the BMPR1A gene for mutations associated with Juvenile Polyposis Syndrome (JPS), a hereditary condition increasing colorectal canc... | Peripheral whole blood (EDTA), extracted DNA, or FTA card blood spot | 3–4 Weeks | 2,800.00 AED | Details |
| BRAF Gene LEOPARD Syndrome Type 3 Genetic Test TEST-2647 LOINC 79679-8 | This test identifies germline mutations in the BRAF gene associated with LEOPARD syndrome type 3. | Whole blood (EDTA) or FTA card | 14–21 working days (3–4 calendar weeks) | 2,800.00 AED | Details |
| C2 Deficiency (C2 Gene) Next-Generation Sequencing Test TEST-5345 LOINC 94226-8 | This test identifies pathogenic variants in the C2 gene, which encodes the complement component 2 protein. | Blood (Whole Blood) | 3–4 weeks | 2,800.00 AED | Details |
| C2CD3 Gene Orofaciodigital Syndrome Type 14 Genetic Test TEST-2464 LOINC 95039-2 | This diagnostic test evaluates for pathogenic variants within the C2CD3 gene associated with Orofaciodigital Syndrome Type 14. | Peripheral Whole Blood / Dried Blood Spot (DBS) | 3–4 Weeks | 2,800.00 AED | Details |
| CALCRL Gene Genetic Test TEST-3952 LOINC 21665-7 | This genetic test evaluates the CALCRL gene for pathogenic variants associated with hereditary vascular system defects. | Whole Blood / Extracted DNA / FTA Card (One Drop) | 3 to 4 Weeks | 2,800.00 AED | Details |
| CALM1 Gene Catecholaminergic Polymorphic Ventricular Tachycardia Type 4 (CPVT4) Genetic Test TEST-4110 LOINC 81313-8 | This genetic test analyzes the CALM1 gene to identify variants associated with Catecholaminergic Polymorphic Ventricular Tachycardia Type 4 (CPVT4). | Peripheral Whole Blood (3–5 mL in EDTA tube) or Buccal Swab / FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| CASR Gene Hypocalciuric Hypercalcemia Type 1 Genetic Test TEST-3776 LOINC 74823-8 | This test identifies genetic variants in the CASR gene associated with Familial Hypocalciuric Hypercalcemia Type 1 (FHH1). It helps confirm the diagno... | Whole blood (EDTA), extracted DNA, or FTA card blood spot | 3–4 weeks | 2,800.00 AED | Details |
| CAV3 Gene Mutation Analysis (NGS) for Elevated Serum Creatine Kinase (CPK) Test TEST-4114 LOINC 95209-3 | This test identifies mutations in the CAV3 gene associated with elevated serum creatine kinase levels and related neuromuscular disorders. | Peripheral Whole Blood | 3-4 Weeks | 2,800.00 AED | Details |
| CBFB Gene Skeletal Abnormalities Genetic Test TEST-2290 LOINC 81247-9 | This test evaluates the CBFB gene for pathogenic variants associated with skeletal dysplasias and dysmorphology. | Peripheral Whole Blood, Extracted DNA, One‑drop FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| CC2D2A Gene COACH Syndrome Genetic Test TEST-4119 LOINC 55233-1 | This test analyzes the CC2D2A gene for variants associated with COACH syndrome. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| CCBE1 Gene Analysis (Hennekam Lymphangiectasia‑Lymphedema Syndrome Type 1) Test TEST-5051 LOINC 21636-6 | This genetic test detects pathogenic DNA variants in the entire coding region of the CCBE1 gene, confirming the molecular cause of Hennekam syndrome t... | Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| CDAN1 Gene Anemia Dyserythropoietic Type 1A Genetic Test TEST-5992 LOINC 81303-1 | This test evaluates the CDAN1 gene for variants associated with Congenital Dyserythropoietic Anemia Type 1A (CDA I). It identifies SNVs, indels, and c... | Whole Blood (EDTA), Extracted Genomic DNA, FTA Card Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| CDSN Gene Peeling Skin Syndrome Type 1 Genetic Test TEST-4666 LOINC 94229-4 | This genetic test analyzes the CDSN gene to detect mutations associated with Peeling Skin Syndrome Type 1. | Whole Blood, Extracted DNA, FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| CEACAM16 Gene Deafness Autosomal Dominant Type 4B Genetic Test TEST-5680 LOINC 55233-1 | This test identifies pathogenic variants in the CEACAM16 gene associated with autosomal dominant deafness type 4B. | Whole Blood (EDTA), DNA Extract, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| CEP290 Gene Sequencing (Joubert Syndrome Type 5) Test TEST-4678 LOINC 79016-0 | This test identifies pathogenic variants in the CEP290 gene, confirming a molecular diagnosis for Joubert syndrome type 5. | Peripheral Whole Blood, FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| CEP63 Gene Seckel Syndrome Type 6 Genetic Test TEST-2349 LOINC 81261-6 | This test identifies pathogenic variants in the CEP63 gene associated with Seckel syndrome type 6. | Whole Blood (EDTA tube), previously extracted DNA, or dried blood spot on FTA card | 3 to 4 Weeks | 2,800.00 AED | Details |
| CERS3 Gene Sequencing for Autosomal Recessive Congenital Ichthyosis Type 9 (ARCI9) Test TEST-4975 LOINC 48018-6 | This test identifies mutations in the CERS3 gene to confirm a diagnosis of autosomal recessive congenital ichthyosis type 9 (ARCI9). | Peripheral whole blood (EDTA tube), FTA card, or extracted DNA sample | 3 – 4 weeks | 2,800.00 AED | Details |
| CFHR1 Gene Hemolytic Uremic Syndrome Genetic Test TEST-3777 LOINC 81261-2 | This test evaluates the CFHR1 gene for pathogenic variants associated with atypical hemolytic uremic syndrome (aHUS). It identifies deletions, duplica... | Whole blood, buccal swab, or dried blood spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| CFHR4 Gene Hemolytic Uremic Syndrome (HUS) Genetic Test TEST-3810 LOINC 81329-5 | This test evaluates the CFHR4 gene for pathogenic variants associated with atypical hemolytic uremic syndrome (aHUS). | Whole blood, extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| CFI Gene Hemolytic Uremic Syndrome (HUS) Genetic Test TEST-3806 LOINC 21636-6 | This test evaluates the entire coding region of the CFI gene for pathogenic variants associated with complement-mediated atypical hemolytic uremic syn... | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| CFTR Gene Congenital Bilateral Absence of Vas Deferens (CBAVD) NGS Test TEST-3468 LOINC 21656-1 | This diagnostic test evaluates the CFTR gene for pathogenic variants associated with congenital bilateral absence of the vas deferens (CBAVD), a commo... | Blood or Extracted DNA (Peripheral Whole Blood) | 3 to 4 Weeks | 2,800.00 AED | Details |
| CHRND Gene Sequencing for Congenital Myasthenic Syndrome Type 3C Test TEST-5313 LOINC 86635-0 | This test identifies pathogenic variants in the CHRND gene associated with Congenital Myasthenic Syndrome Type 3C. | Whole Blood (EDTA/ACD), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| CHST8 Gene Peeling Skin Syndrome Type 3 Genetic Test TEST-4661 LOINC 93957-3 | This genetic test identifies pathogenic variants in the CHST8 gene associated with acral peeling skin syndrome type 3. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| CIZ1 Gene Analysis for Cervical Dystonia Test TEST-4040 LOINC 21636-6 | This test analyzes the CIZ1 gene for mutations associated with cervical dystonia, a movement disorder causing involuntary neck muscle contractions. | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 21–28 Days | 2,800.00 AED | Details |
| CLN3 Gene Ceroid Lipofuscinosis Neuronal Type 3 Genetic Test TEST-6179 LOINC 82329-8 | This test identifies pathogenic variants in the CLN3 gene associated with juvenile-onset neuronal ceroid lipofuscinosis (Batten disease). It utilizes... | Peripheral Whole Blood (3 mL in EDTA tube) | 3–4 Weeks (expedited option available) | 2,800.00 AED | Details |
| COG1 Gene Glycosylation Disorder Type 2G (COG1-CDG) Genetic Test TEST-6276 LOINC 92807-0 | This test identifies pathogenic variants in the COG1 gene to diagnose Congenital Disorder of Glycosylation Type IIg (COG1-CDG). | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| COL2A1 Gene Spondyloepimetaphyseal Dysplasia Strudwick Type NGS Test TEST-2286 LOINC 21636-6 | This diagnostic test evaluates the entire coding region of the COL2A1 gene for pathogenic variants associated with Spondyloepimetaphyseal Dysplasia St... | Peripheral whole blood (3–5 mL in EDTA tube), extracted genomic DNA, or dried blood spot on FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| COL4A3 Gene Alport Syndrome (Autosomal Recessive) Test TEST-5747 LOINC 20851-7 | This test evaluates the COL4A3 gene for mutations associated with autosomal recessive Alport syndrome. | Whole Blood (EDTA tube), Extracted DNA, or One Drop Blood on FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| COX4I2 Gene Genetic Test TEST-5118 LOINC 21636-6 | This test evaluates the entire coding region and splice sites of the COX4I2 gene for pathogenic variants. | Peripheral whole blood (3–5 mL in EDTA) or buccal swab | 3–4 Weeks | 2,800.00 AED | Details |
| COX6B1 Gene Mitochondrial Complex IV Deficiency Genetic Test TEST-5067 LOINC 81395-7 | This genetic test evaluates the COX6B1 gene for pathogenic variants associated with mitochondrial complex IV deficiency. | Whole blood (EDTA) or buccal swab | 3–4 weeks | 2,800.00 AED | Details |
| CPOX Gene Coproporphyria Genetic Test TEST-6184 LOINC 21636-6 | This test evaluates the CPOX gene for pathogenic variants associated with Hereditary Coproporphyria (HCP). | Peripheral Whole Blood or Dried Blood Spot (DBS) | 14–21 Business Days | 2,800.00 AED | Details |
| CR1 Gene Deficiency Genetic Test TEST-4218 LOINC 51966-3 | This test detects pathogenic variants in the CR1 gene, identifying individuals with complement receptor 1 deficiency. | Peripheral Whole Blood, Extracted DNA, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| CR2 Gene Common Variable Immunodeficiency Type 7 (CVID7) Genetic Test TEST-3731 LOINC 94288-6 | This test evaluates the CR2 gene for pathogenic variants associated with Common Variable Immunodeficiency Type 7 (CVID7). | Peripheral whole blood (EDTA) or buccal swab | 3–4 Weeks | 2,800.00 AED | Details |
| CREB3L1 Genetic Test for Osteogenesis Disorders TEST-4737 LOINC 92813-1 | This test evaluates the entire coding region of the CREB3L1 gene for pathogenic variants associated with osteogenesis imperfecta and related connectiv... | Whole Blood or FTA Card | 21–28 days | 2,800.00 AED | Details |
| CTC1 Gene Sequencing (Coat Plus Syndrome) Genetic Test TEST-3545 LOINC 81407-5 | This test evaluates the CTC1 gene for pathogenic variants associated with Coat Plus syndrome (CRMCC) and related telomere biology disorders. | Whole Blood (EDTA), FTA card, or Extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| CYP11B2 Genetic Test for Congenital Hypoaldosteronism (CMO I Deficiency) TEST-6139 LOINC 21621-4 | This test evaluates the CYP11B2 gene for pathogenic variants associated with Congenital Hypoaldosteronism Type I (CMO I deficiency). It identifies mut... | Peripheral Venous Whole Blood (EDTA) or FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| CYP27A1 Genetic Sequencing Test for Cerebrotendinous Xanthomatosis TEST-3985 LOINC 48808-7 | This test identifies pathogenic variants in the CYP27A1 gene associated with Cerebrotendinous Xanthomatosis (CTX). | Whole blood (EDTA tube), extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| CYP4F22 Gene Ichthyosis, Lamellar Type 3 Genetic Test TEST-4971 LOINC 92185-1 | This genetic test identifies pathogenic variants in the CYP4F22 gene associated with autosomal recessive lamellar ichthyosis type 3. | Peripheral Blood (EDTA) or Buccal Swab | 3-4 Weeks | 2,800.00 AED | Details |
| DCLRE1C Gene Test TEST-4562 LOINC 21665-0 | This genetic test evaluates the DCLRE1C gene for mutations associated with Severe Combined Immunodeficiency (Athabascan type). It detects various gene... | Peripheral Whole Blood or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| DGUOK Gene Mitochondrial DNA Depletion Syndrome Genetic Test TEST-5086 LOINC 81247-9 | This genetic test detects mutations in the DGUOK gene associated with mitochondrial DNA depletion syndrome. | Whole blood (K2-EDTA tube, 2 mL) or FTA card (dried blood spots) | 3–4 weeks from receipt of sample | 2,800.00 AED | Details |
| DLL4 Gene Adams-Oliver Syndrome Type 6 Genetic Test TEST-3092 LOINC 81247-9 | This genetic test evaluates the DLL4 gene for pathogenic variants associated with Adams-Oliver syndrome type 6. | Peripheral whole blood (3–5 mL in EDTA) or extracted gDNA | 3–4 Weeks | 2,800.00 AED | Details |
| DPAGT1 Gene Congenital Disorder of Glycosylation Type 1J (CDG‑Ij) Genetic Test TEST-4466 LOINC 21636-6 | This test identifies mutations in the DPAGT1 gene, confirming a diagnosis of Congenital Disorder of Glycosylation Type 1J (CDG‑Ij). | Peripheral whole blood (EDTA or FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| DSC3 Gene Hypotrichosis and Recurrent Skin Vesicles Genetic Test TEST-4995 LOINC 80823-7 | This genetic test sequences the entire DSC3 gene to detect mutations associated with hypotrichosis and recurrent skin vesicles. | Peripheral Whole Blood, Buccal Swab, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| DSP Gene Cardiomyopathy, Dilated with Woolly Hair and Keratoderma Genetic Test TEST-4280 LOINC 81247-9 | This genetic test analyzes the DSP gene to detect pathogenic variants associated with DSP-related cardiomyopathy, woolly hair, and keratoderma. | Peripheral Whole Blood | 3–4 Weeks from sample receipt | 2,800.00 AED | Details |
| DUOX1 Gene Thyroid Dyshormonogenesis Type 6 Genetic Test TEST-3501 LOINC 86234-4 | This genetic test identifies pathogenic variants in the DUOX1 gene associated with thyroid dyshormonogenesis type 6. | Peripheral Blood (3 mL EDTA), Extracted DNA, or FTA Card | 3 to 4 Weeks (express 14‑day option available) | 2,800.00 AED | Details |
| EDN3 Gene Hirschsprung Disease Genetic Test TEST-2766 LOINC 81247-9 | This test evaluates the endothelin-3 (EDN3) gene for pathogenic variants associated with Hirschsprung disease. | Peripheral whole blood (EDTA) or FTA card dried blood spot | 3–4 Weeks (with interim verbal update) | 2,800.00 AED | Details |
| EDNRB Gene Waardenburg Syndrome / Hirschsprung Disease Genetic Test TEST-5949 LOINC 82863-9 | This test analyzes the EDNRB gene to detect pathogenic variants associated with Waardenburg syndrome (sensorineural hearing loss, pigmentary anomalies... | Peripheral Blood, Extracted DNA, or FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| EFCAB13 Gene Autism Genetic Test TEST-3890 LOINC 51966-6 | This test examines the entire coding region of the EFCAB13 gene using Next Generation Sequencing to identify pathogenic variants linked to Autism Spec... | Peripheral Whole Blood (FTA Card or Venipuncture) | 3 to 4 Weeks | 2,800.00 AED | Details |
| EIF2AK3 Gene (Wolcott‑Rallison Syndrome) Genetic Test TEST-4488 LOINC 48020-7 | This genetic test detects pathogenic variants in the EIF2AK3 gene, confirming the diagnosis of Wolcott‑Rallison syndrome. | Whole blood (EDTA) or extracted genomic DNA | 3–4 weeks | 2,800.00 AED | Details |
| EIF2B4 Gene Leukoencephalopathy with Vanishing White Matter (Genetic Test) TEST-4788 LOINC 21665-5 | This genetic test identifies pathogenic variants in the EIF2B4 gene, the established molecular cause of Leukoencephalopathy with Vanishing White Matte... | Peripheral Whole Blood (EDTA) or FTA Card Blood Spot | 21–28 calendar days | 2,800.00 AED | Details |
| ELN Gene Supravalvar Aortic Stenosis Genetic Test TEST-3996 LOINC 94745-7 | This genetic test identifies pathogenic variants in the ELN gene associated with supravalvular aortic stenosis and Williams syndrome. | Whole blood (EDTA tube), extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| ELP1 Gene HSAN3 Genetic Test TEST-4586 LOINC 94740-6 | This test analyzes the ELP1 gene for pathogenic variants associated with Hereditary Sensory and Autonomic Neuropathy Type III (Familial Dysautonomia).... | Whole Blood (Peripheral), Dried Blood Spot (FTA Card), or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| EMX2 Gene Schizencephaly Next-Generation Sequencing (NGS) Genetic Test TEST-2366 LOINC 21636-6 | This test identifies pathogenic variants within the EMX2 gene associated with schizencephaly. | Whole Blood (EDTA), Extracted Genomic DNA, or FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| ENAM Gene Amelogenesis Imperfecta Type 1B Genetic Test TEST-5456 LOINC 21636-6 | This genetic test identifies pathogenic variants in the ENAM gene associated with Amelogenesis Imperfecta Type 1B. | Whole Blood (EDTA) or Buccal Swab | 21–28 Days (3–4 Weeks) | 2,800.00 AED | Details |
| ENAM Gene Amelogenesis Imperfecta Type 1C Genetic Test TEST-5410 LOINC 81261-8 | This test identifies pathogenic variants in the ENAM gene associated with hypocalcified amelogenesis imperfecta. | Whole blood or Dried Blood Spot (FTA Card) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| ERCC3 Gene Trichothiodystrophy Genetic Test TEST-4519 LOINC 55182-4 | This genetic test identifies pathogenic variants in the ERCC3 gene associated with Trichothiodystrophy (TTD). It utilizes Next-Generation Sequencing (... | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 Genetic Test TEST-3051 LOINC 59009-0 | This test evaluates the ERCC6L2 gene for pathogenic variants associated with inherited bone marrow failure syndrome type 2. | Peripheral whole blood | 3 to 4 weeks | 2,800.00 AED | Details |
| ERCC8 Gene (Cockayne Syndrome Type A) Genetic Test TEST-2962 LOINC 82938-9 | This genetic test evaluates the entire coding region of the ERCC8 gene for pathogenic variants associated with Cockayne syndrome type A. | Peripheral whole blood (EDTA), DNA FTA card, or extracted genomic DNA | 3–4 weeks | 2,800.00 AED | Details |
| ESCO2 Gene Sequencing for SC Phocomelia Syndrome (Roberts Syndrome) Test TEST-2376 LOINC 82939-1 | This diagnostic test evaluates the ESCO2 gene for mutations causing SC Phocomelia syndrome (Roberts syndrome). It identifies pathogenic variants and c... | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency Genetic Test TEST-5959 LOINC 94299-1 | This genetic test evaluates the ETFB gene for mutations associated with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD). It identifies pathogenic va... | Peripheral whole blood (EDTA) or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B Genetic Test TEST-5581 LOINC 82157-4 | This genetic test analyzes the EXOSC3 gene to identify mutations causing Pontocerebellar Hypoplasia Type 1B. | Peripheral Whole Blood (Venipuncture or FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| EXOSC8 Gene (Joubert Syndrome) Genetic Test TEST-4692 LOINC 87818-5 | This test evaluates the EXOSC8 gene for pathogenic variants associated with Joubert syndrome. | Peripheral Whole Blood (EDTA Vacutainer) / Saliva (Buccal Swab) | 3–4 Weeks | 2,800.00 AED | Details |
| FAN1 Gene Interstitial Nephritis Karyomegalic Genetic Test TEST-3681 LOINC 58536-9 | This test evaluates the FAN1 gene for pathogenic variants associated with Karyomegalic Interstitial Nephritis (KIN). | Whole Blood (EDTA) or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| FAS Gene Autoimmune Lymphoproliferative Syndrome Type 1A (ALPS) Genetic Test TEST-5379 LOINC 94087-9 | This genetic test analyzes the FAS gene for mutations associated with Autoimmune Lymphoproliferative Syndrome Type 1A (ALPS). | Whole Blood (2-5 mL EDTA), Extracted DNA, or FTA Card Dried Blood Spot | 3-4 weeks | 2,800.00 AED | Details |
| FAT1 Gene Sequencing (Facioscapulohumeral Dystrophy‑like Phenotype) Test TEST-4404 LOINC 81247-9 | This test evaluates the FAT1 gene for pathogenic variants associated with facioscapulohumeral muscular dystrophy-like phenotypes. | Peripheral Whole Blood or FTA Card (DNA) | 3–4 weeks | 2,800.00 AED | Details |
| FAT4 Gene Van Maldergem Syndrome Type 2 Genetic Test TEST-2201 LOINC 82101-1 | This genetic test evaluates the FAT4 gene for mutations associated with Van Maldergem syndrome type 2. | Whole Blood (EDTA) or Saliva (Buccal Swab) | 3 to 4 weeks | 2,800.00 AED | Details |
| FBN1 Gene (Marfan/Lipodystrophy) Genetic Test TEST-2620 LOINC 21647-4 | This test evaluates the FBN1 gene for pathogenic variants associated with Marfan syndrome and lipodystrophy. | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| FGFR2 Gene Saethre-Chotzen Syndrome Genetic Test TEST-2381 LOINC 81247-9 | This test identifies pathogenic variants within the FGFR2 gene associated with Saethre-Chotzen syndrome. | Peripheral whole blood | 3 to 4 weeks | 2,800.00 AED | Details |
| FGFR2 Gene Sequencing for Craniosynostosis & Dysmorphology (NGS) Test TEST-2360 LOINC 21636-0 | This diagnostic test evaluates the entire coding region of the FGFR2 gene for pathogenic variants associated with craniosynostosis syndromes and relat... | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 weeks (21–28 working days) | 2,800.00 AED | Details |
| FLNA Gene FG Syndrome Type 2 Genetic Test TEST-4415 LOINC 94854-3 | This test evaluates the FLNA gene for pathogenic variants associated with FG syndrome type 2. | Peripheral Whole Blood | 3 – 4 Weeks | 2,800.00 AED | Details |
| FLNA Gene Otopaladigital Syndrome Type 1 Genetic Test TEST-5596 LOINC 59410-4 | This diagnostic test evaluates the FLNA gene for pathogenic variants associated with Otopaladigital syndrome type 1. | Peripheral whole blood (3–5 mL in EDTA tube), extracted DNA, or FTA card blood spot | 3–4 Weeks | 2,800.00 AED | Details |
| FLNA Gene Terminal Osseous Dysplasia Genetic Test TEST-4512 LOINC 94207-1 | This test evaluates the FLNA gene for pathogenic variants associated with terminal osseous dysplasia with pigmentary defects. | Peripheral whole blood (3–5 mL in EDTA tube) or FTA card blood spot | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| FOLR1 Gene Analysis for Cerebral Folate Transport Deficiency Genetic Test | 2800 AED | 2026 DHA Guidelines TEST-5304 LOINC 94015-0 | This genetic test identifies mutations in the FOLR1 gene associated with cerebral folate transport deficiency. | Peripheral Whole Blood or FTA Card Spot | 21–28 calendar days | 2,800.00 AED | Details |
| GATA2 Gene Emberger Syndrome Genetic Test TEST-5181 LOINC 85401-6 | This genetic test identifies pathogenic germline mutations in the GATA2 gene associated with Emberger Syndrome. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot | 3–4 Weeks (21–28 business days) | 2,800.00 AED | Details |
| GATA6 Gene Atrial Septal Defect Type 9 Genetic Test TEST-4400 LOINC 10304-5 | This genetic test identifies pathogenic variants in the GATA6 gene associated with atrial septal defect type 9. | Peripheral Whole Blood (EDTA) or DNA FTA Card | 3-4 Weeks | 2,800.00 AED | Details |
| GATA6 Gene Pancreatic Agenesis and Congenital Heart Defects Genetic Test TEST-4162 LOINC 77673-8 | This test identifies pathogenic mutations within the GATA6 gene associated with pancreatic agenesis and congenital heart defects. | Peripheral whole blood (preferred), buccal swab, or dried blood spot | 3–4 Weeks | 2,800.00 AED | Details |
| GCM2 Gene Familial Isolated Hypoparathyroidism Genetic Test TEST-3710 LOINC 79219-2 | This genetic test detects pathogenic variants in the GCM2 gene associated with familial isolated hypoparathyroidism. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| GDF2 Gene Hereditary Hemorrhagic Telangiectasia Type 5 (HHT5) Genetic Test TEST-4540 LOINC 81247-9 | This test evaluates the GDF2 gene for mutations associated with Hereditary Hemorrhagic Telangiectasia Type 5 (HHT5), a rare vascular disorder. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3 – 4 Weeks | 2,800.00 AED | Details |
| GDF5 Gene Brachydactyly Type A1C Genetic Test TEST-3027 LOINC 82939-0 | This test identifies pathogenic variants in the GDF5 gene associated with isolated brachydactyly type A1C. | Peripheral whole blood (3–5 mL in EDTA) or dried blood spot (FTA card) | 3–4 weeks from sample receipt and genetic counselling | 2,800.00 AED | Details |
| GFI1 Gene Genetic Test for Nonimmune Chronic Idiopathic Neutropenia of Adults (NI-CINA) TEST-4753 LOINC 81305-5 | This test evaluates the GFI1 gene for pathogenic variants associated with nonimmune chronic idiopathic neutropenia in adults. | Whole blood (EDTA tube) or buccal swab | 3 to 4 Weeks from sample receipt at laboratory | 2,800.00 AED | Details |
| GFI1 Gene Severe Congenital Neutropenia Type 2 (Autosomal Dominant) Genetic Test TEST-4766 LOINC 81247-9 | This test identifies mutations in the GFI1 gene associated with Severe Congenital Neutropenia Type 2. | Whole blood (EDTA), Extracted DNA (≥2 μg), or Dried Blood Spot (FTA card) | 3 to 4 weeks | 2,800.00 AED | Details |
| GJA1 Gene Oculodentodigital Dysplasia Genetic Test TEST-2496 LOINC 82328-0 | This test evaluates the GJA1 gene for pathogenic variants associated with Oculodentodigital Dysplasia (ODDD). It identifies mutations causing micropht... | Peripheral whole blood, dried blood spot (FTA card), or isolated DNA | 3–4 weeks | 2,800.00 AED | Details |
| GLB1 Gene Mucopolysaccharidosis Type 4B Genetic Test TEST-5931 LOINC 21615-0 | This genetic test evaluates the GLB1 gene for pathogenic variants associated with Mucopolysaccharidosis type IVB (Morquio syndrome B). It identifies s... | Whole blood (EDTA) – 3–5 mL; also accepts extracted DNA or dried blood spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 Genetic Test TEST-2655 LOINC 55115-1 | This test identifies pathogenic variants in the GLE1 gene associated with Lethal Congenital Contracture Syndrome Type 1 (LCCS1). It confirms the molec... | Whole Blood (EDTA), Extracted DNA, Dried Blood Spot on FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| GNAS Gene Pseudohypoparathyroidism Type 1C Genetic Test TEST-3508 LOINC 48783-2 | This test identifies pathogenic variants within the GNAS gene associated with Pseudohypoparathyroidism Type 1C. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 Genetic Test TEST-2404 LOINC 104199-9 | This test analyzes the GNPAT gene for mutations associated with rhizomelic chondrodysplasia punctata type 2. | Peripheral Whole Blood (5–10 mL) | 3–4 Weeks | 2,800.00 AED | Details |
| GNPTAB Gene Mucolipidosis Type II Alpha/Beta Genetic Test TEST-6005 LOINC 82310-1 | This diagnostic test evaluates the entire GNPTAB gene for pathogenic variants associated with Mucolipidosis II (I-cell disease). It utilizes next-gene... | Peripheral Whole Blood (EDTA) | 3-4 Weeks | 2,800.00 AED | Details |
| GP1BA Gene Bernard-Soulier Syndrome Type A2 Genetic Test TEST-4033 LOINC 81247-9 | This test identifies genetic variants in the GP1BA gene associated with Bernard-Soulier syndrome type A2. | Peripheral whole blood (EDTA) or FTA card (buccal-derived DNA) | 3–4 Weeks | 2,800.00 AED | Details |
| GUCY1A3 Gene NGS Test for Moyamoya Type 6 with Achalasia TEST-3983 LOINC 90509-0 | This diagnostic test evaluates the GUCY1A3 gene for pathogenic variants associated with Moyamoya disease type 6 and achalasia. | Peripheral whole blood, extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| GYS2 Gene Glycogen Storage Disease Type 0 (GSD 0) Genetic Test TEST-6386 LOINC 101521-1 | This test identifies pathogenic variants within the GYS2 gene associated with Glycogen Storage Disease Type 0 (GSD 0). It utilizes Next-Generation Seq... | Whole Blood, Extracted DNA, or One Drop Blood on FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| Hemochromatosis HFE Full Gene Sequence Analysis Test TEST-1547 LOINC 94217-3 | This test evaluates the HFE gene for mutations associated with hereditary hemochromatosis. | Peripheral whole blood | 4–6 business weeks | 4,800.00 AED | Details |
| HERC2 Gene Mental Retardation, Autosomal Recessive Type 38 Test TEST-4869 LOINC 81267-6 | This test analyzes the HERC2 gene to diagnose autosomal recessive mental retardation type 38 (MRT38). It detects pathogenic variants, including single... | Peripheral whole blood or DNA specimen | 3 – 4 weeks | 2,800.00 AED | Details |
| HMG20B Gene Dysmorphism Genetic Test TEST-2865 LOINC 81317-0 | This genetic test evaluates the HMG20B gene for sequence variants linked to congenital anomaly syndromes and neurodevelopmental disorders. | Peripheral whole blood in EDTA, extracted DNA, or validated FTA card | 3–4 weeks (expedited options available) | 2,800.00 AED | Details |
| HOXD13 Gene VATER Association Genetic Test TEST-2209 LOINC 94100-6 | This test evaluates the HOXD13 gene for pathogenic variants associated with VATER association and related limb malformations. | Whole Blood (EDTA), FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| HR Gene Alopecia Universalis Genetic Test TEST-5459 LOINC 50397-9 | This test identifies pathogenic variants in the HR gene associated with Alopecia Universalis and Atrichia with Papular Lesions. | Whole Blood, Extracted DNA, or FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| HSPG2 Gene Dyssegmental Dysplasia, Silverman-Handmaker Type Genetic Test TEST-4231 LOINC 94120-2 | This genetic test identifies pathogenic variants within the HSPG2 gene, confirming the diagnosis of Dyssegmental Dysplasia, Silverman-Handmaker Type. | Peripheral Whole Blood, DNA FTA Card, Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| IFT172 Gene Short-Rib Thoracic Dysplasia Type 10 with or without Polydactyly Genetic Test TEST-2313 LOINC 94035-0 | This test evaluates the IFT172 gene for pathogenic variants associated with Short-Rib Thoracic Dysplasia Type 10 (SRTD10). It identifies genetic mutat... | Peripheral Whole Blood (EDTA) or Buccal Swab (neonates) | 3–4 weeks (expedited available) | 2,800.00 AED | Details |
| IKBKG Gene Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency Genetic Test TEST-5219 LOINC 58000-6 | This genetic test identifies mutations in the IKBKG gene associated with X-linked hypohidrotic ectodermal dysplasia with immune deficiency. | Peripheral whole blood (EDTA) or FTA card dried blood spot | 3–4 weeks | 2,800.00 AED | Details |
| IKBKG Gene Genetic Test for Atypical Mycobacterial Infection Susceptibility TEST-5386 LOINC 92848-8 | This test evaluates the IKBKG (NEMO) gene for pathogenic variants associated with primary immunodeficiency and susceptibility to atypical mycobacteria... | Peripheral Whole Blood, FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| IRAK4 Deficiency Genetic Test TEST-4864 LOINC 81247-9 | This test detects pathogenic variants in the IRAK4 gene using Next-Generation Sequencing (NGS). It identifies single-nucleotide variants, small insert... | Whole Blood (Venipuncture or FTA Card Dried Blood Spot) | 3–4 weeks | 2,800.00 AED | Details |
| ITK Gene Lymphoproliferative Syndrome Type 1 Genetic Test TEST-3247 LOINC 60215-0 | This test identifies pathogenic variants within the ITK gene associated with Lymphoproliferative Syndrome Type 1 (LPFS1), a primary immunodeficiency. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| KCNQ2 Gene Sequencing (Benign Familial Neonatal Seizures Type 1) Test TEST-5681 LOINC 94218-6 | This test evaluates the KCNQ2 gene for mutations associated with benign familial neonatal seizures type 1 (BFNS1). | Whole Blood (EDTA), Buccal Swab, or FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| KDM6A Gene (Kabuki Syndrome Type 2) DNA Test TEST-4611 LOINC 48002-0 | This test identifies pathogenic variants in the KDM6A gene, which are associated with Kabuki syndrome type 2. | Whole Blood (5 mL in EDTA), Extracted DNA, or FTA Card Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| KHK Gene (Essential Fructosuria) Genetic Test TEST-6303 LOINC 101379-3 | This test evaluates the KHK gene for variants associated with Essential Fructosuria, a benign metabolic condition. | Whole Blood (EDTA), FTA Card, or Extracted Genomic DNA | 3–4 Weeks (Express available) | 2,800.00 AED | Details |
| KPTN Gene Intellectual Disability (MRD41) Genetic Test TEST-4981 LOINC 82939-0 | This test identifies pathogenic variants in the KPTN gene associated with autosomal recessive intellectual disability type 41 (MRD41). It uses next-ge... | Peripheral whole blood or FTA card spot | 3–4 weeks | 2,800.00 AED | Details |
| KRAS Gene Noonan Syndrome Type 3 Genetic Test TEST-2495 LOINC 91699-4 | This test identifies pathogenic variants within the KRAS gene, which are associated with Noonan syndrome type 3 and related RASopathies. | Peripheral Blood (EDTA) or Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| KRAS Gene Sequencing for Cardiofaciocutaneous Syndrome (Genetic Test) TEST-4381 LOINC 98734-8 | This test identifies pathogenic variants in the KRAS gene associated with Cardiofaciocutaneous Syndrome. | Peripheral Whole Blood or Extracted DNA (saliva acceptable with prior approval) | 3–4 Weeks | 2,800.00 AED | Details |
| KRT14 Gene Epidermolysis Bullosa Simplex, Koebner Type Genetic Test TEST-5160 LOINC 21636-6 | This genetic test evaluates the KRT14 gene for pathogenic variants associated with Epidermolysis Bullosa Simplex, Koebner type. | Whole Blood (3–5 mL in EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| L1CAM Gene Hydrocephalus with Aqueductal Stenosis & Congenital Intestinal Pseudo-Obstruction Test TEST-4607 LOINC 21790-1 | This genetic test evaluates the L1CAM gene for pathogenic variants associated with congenital hydrocephalus with aqueductal stenosis and intestinal ps... | Whole Blood (Peripheral Venous Blood) | 3–4 Weeks | 2,800.00 AED | Details |
| LAMA3 Gene (Epidermolysis Bullosa, Junctional, Herlitz Type) Genetic Test TEST-5149 LOINC 81305-1 | This test evaluates the LAMA3 gene for pathogenic variants associated with Herlitz junctional epidermolysis bullosa (JEB-H). | Whole Blood, Extracted DNA, or FTA Card Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| LAMA5 Gene Sequencing (Focal Segmental Glomerulosclerosis, LAMA5‑Related) Genetic Test TEST-3808 LOINC 81263-5 | This test detects pathogenic variants in the LAMA5 gene associated with hereditary focal segmental glomerulosclerosis (FSGS). It provides a molecular... | Peripheral Whole Blood or FTA Card Sample | 3 to 4 Weeks | 2,800.00 AED | Details |
| LAMB1 Gene Lissencephaly Type 5 Genetic Test TEST-2641 LOINC 81247-9 | This test identifies pathogenic variants within the LAMB1 gene, confirming the genetic basis for Lissencephaly Type 5. | Peripheral whole blood (venous or finger-prick) | 3–4 weeks | 2,800.00 AED | Details |
| LAMC1 Gene Pelvic Organ Prolapse, LAMC1‑Related Genetic Test TEST-2438 LOINC 86299-5 | This diagnostic test evaluates the LAMC1 gene for pathogenic variants associated with pelvic organ prolapse and related syndromes. | Blood (Whole Blood or FTA Card) or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| LBR Gene Greenberg Skeletal Dysplasia Next-Generation Sequencing (Genetic Test TEST-5074 LOINC 92864-1 | This genetic test evaluates the LBR gene for pathogenic variants associated with Greenberg skeletal dysplasia. | Whole blood (EDTA), FTA card, or extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| LBR Gene Pelger-Huët Anomaly Next-Generation Sequencing (Genetic Test TEST-2459 LOINC 34179-6 | This test evaluates the LBR gene for variants associated with Pelger-Huët anomaly, a condition affecting neutrophil morphology. | Whole blood (EDTA), extracted DNA, or FTA card (dried blood spot) | 3 to 4 Weeks | 2,800.00 AED | Details |
| LHB Gene Hypogonadotropic Hypogonadism Genetic Test TEST-3770 LOINC 21656-9 | This test identifies pathogenic variants in the LHB gene associated with hypogonadotropic hypogonadism. | Whole Blood (EDTA Tube), Extracted DNA (Minimum 1 µg), One Drop Blood on FTA Card, DNA FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| LIPA Gene Sequencing for Wolman Disease (NGS) Test TEST-5755 LOINC 75430-1 | This diagnostic test evaluates the LIPA gene for pathogenic variants associated with lysosomal acid lipase deficiency (Wolman disease and CESD). | Peripheral Whole Blood (EDTA) | 3 – 4 Weeks | 2,800.00 AED | Details |
| LMNA Gene Mandibuloacral Dysplasia Genetic Test TEST-2619 LOINC 88758-8 | This genetic test detects pathogenic variants in the LMNA gene associated with mandibuloacral dysplasia. | Peripheral whole blood or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| LTBP2 Gene Weill-Marchesani Syndrome Type 3 Genetic Test TEST-2193 LOINC 21636-6 | This genetic test evaluates the LTBP2 gene for mutations associated with Weill-Marchesani syndrome type 3. | Peripheral whole blood or FTA card blood spot | 3 – 4 Weeks | 2,800.00 AED | Details |
| MAMLD1 Gene Hypospadias Type 2, X‑linked Genetic Test TEST-3398 LOINC 94041-1 | This test evaluates the MAMLD1 gene for mutations associated with X-linked Hypospadias Type 2. | Peripheral Whole Blood (3–5 mL in EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| MARS2 Gene Spastic Ataxia Type 3 (Autosomal Recessive) Genetic Test TEST-5706 LOINC 48726-0 | This genetic test detects pathogenic variants in the MARS2 gene associated with autosomal recessive spastic ataxia type 3. | Whole blood (EDTA) or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| MBD1 Gene Autism Genetic Test TEST-3926 LOINC 81335-9 | This test evaluates the MBD1 gene for pathogenic variants associated with autism spectrum disorder (ASD). It uses Next-Generation Sequencing (NGS) to... | Whole Blood, Extracted DNA, or FTA Card (Dried Blood Spot) | 3–4 Weeks (Expedited Available) | 2,800.00 AED | Details |
| MBTPS2 Gene IFAP Syndrome Genetic Test TEST-4967 LOINC 82235-8 | This test identifies pathogenic variants in the MBTPS2 gene associated with Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) syndrome. | Peripheral Blood (3–5 ml) or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| MEGF8 Gene Carpenter Syndrome Type 2 Genetic Test TEST-3003 LOINC 21636-6 | This test identifies pathogenic variants in the MEGF8 gene associated with Carpenter syndrome type 2. | Peripheral Whole Blood (3–5 mL in EDTA tube) | 3 to 4 Weeks | 2,800.00 AED | Details |
| MGP Gene Keutel Syndrome Genetic Test TEST-2679 LOINC 21636-6 | This genetic test detects pathogenic variants in the MGP gene associated with Keutel syndrome. | Whole Blood, Extracted DNA, or FTA Card Blood Spot | 3–4 weeks | 2,800.00 AED | Details |
| MMUT Gene Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency Genetic Test TEST-6033 LOINC 21639-4 | This genetic test analyzes the MMUT gene for mutations causing methylmalonic aciduria. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 14–21 Business Days | 2,800.00 AED | Details |
| MOCS1 Gene Molybdenum Cofactor Deficiency Type A Genetic Test TEST-6012 LOINC 94306-0 | This genetic test identifies pathogenic variants in the MOCS1 gene to diagnose Molybdenum Cofactor Deficiency Type A. | Whole blood (EDTA), extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| MPDZ Gene Hydrocephalus, Nonsyndromic, Autosomal Recessive Type 2 Genetic Test TEST-4610 LOINC 96567-0 | This test identifies pathogenic biallelic variants in the MPDZ gene, confirming a diagnosis of autosomal recessive nonsyndromic hydrocephalus type 2. | Whole Blood or Buccal Swab | 3–4 weeks (21–28 business days) | 2,800.00 AED | Details |
| MRAP Gene Glucocorticoid Deficiency Type 2 Genetic Test TEST-6333 LOINC 94122-3 | This test identifies pathogenic variants in the MRAP gene associated with Familial Glucocorticoid Deficiency Type 2. | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| MSX1 Gene (Witkop Syndrome) Genetic Test TEST-2169 LOINC 91748-0 | This genetic test analyzes the MSX1 gene to identify pathogenic variants associated with Witkop syndrome. | Whole Blood (EDTA) or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| MT-ATP6 Gene Mitochondrial Complex V (ATP Synthase) Deficiency Genetic Test TEST-5076 LOINC 50008-0 | This genetic test analyzes the MT-ATP6 gene for mutations associated with mitochondrial complex V deficiency, Leigh syndrome, and NARP syndrome. | Whole Blood, Extracted DNA, or Dried Blood Spot (DBS) Card | 3–4 weeks | 2,800.00 AED | Details |
| MT-TS2 Gene MERRF/MELAS Overlap Syndrome Genetic Test TEST-4181 LOINC 82939-0 | This test evaluates the entire MT-TS2 mitochondrial gene for pathogenic variants associated with MERRF/MELAS overlap syndrome. | Peripheral whole blood (EDTA tube) | 3–4 weeks | 2,800.00 AED | Details |
| MT-TY Gene NGS Test for FSGS & Dilated Cardiomyopathy TEST-3826 LOINC 101203-9 | This test evaluates the MT-TY gene for pathogenic variants associated with FSGS and DCM. | Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| MTOR Gene Sequencing for Neurodevelopmental Disorders Test TEST-5426 LOINC 82309-8 | This test analyzes the MTOR gene for pathogenic variants associated with neurodevelopmental disorders. | Whole Blood, DNA, or FTA Card | 3-4 weeks | 2,800.00 AED | Details |
| MVK Gene Porokeratosis Type 3, Disseminated Superficial Actinic Genetic Test TEST-4626 LOINC 21636-6 | This genetic test evaluates the MVK gene for mutations associated with Disseminated Superficial Actinic Porokeratosis (DSAP). It identifies pathogenic... | Peripheral whole blood (EDTA), genomic DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| MYO18B Gene Sequencing for Klippel‑Feil Syndrome Type 4 (Autosomal Dominant with Myopathy and Facial Dysmorphism) Test TEST-2676 LOINC 86283-0 | This test detects pathogenic variants in the MYO18B gene associated with Klippel‑Feil syndrome type 4, characterized by cervical spine fusion, myopath... | Peripheral whole blood (EDTA) or FTA card blood spot | 3–4 weeks | 2,800.00 AED | Details |
| NDUFAF5 Gene Mitochondrial Complex I Deficiency Genetic Test TEST-5032 LOINC 51966-7 | This test identifies pathogenic DNA variants in the NDUFAF5 gene, which are responsible for mitochondrial complex I deficiency. | Peripheral whole blood, extracted DNA, or dried blood spot (FTA card) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| NDUFAF6 Gene Leigh Syndrome Genetic Test TEST-4634 LOINC 21636-5 | This genetic test evaluates the NDUFAF6 gene for variants associated with Leigh syndrome. | Peripheral whole blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| NOP10 Gene Dyskeratosis Congenita (Autosomal Recessive Type 1) NGS Test TEST-5203 LOINC 81321-0 | This test evaluates the NOP10 gene for pathogenic variants associated with autosomal recessive dyskeratosis congenita type 1. | Whole blood / Extracted DNA / Dried Blood Spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| NOTCH1 Gene Aortic Valve Disease Type 1 Genetic Test TEST-4085 LOINC 21636-6 | This test identifies pathogenic variants in the NOTCH1 gene associated with Aortic Valve Disease type 1. | Peripheral Whole Blood (3–5 mL EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| NPC1 Gene (Niemann‑Pick Type C1) Genetic Test TEST-5486 LOINC 81315-0 | This genetic test evaluates the NPC1 gene for pathogenic variants associated with Niemann-Pick disease type C1. | Peripheral Whole Blood (DNA extract) | 3–4 Weeks | 2,800.00 AED | Details |
| NR1H4 Gene Sequencing for Infantile Cholestasis (NR1H4‑Related) Test TEST-3909 LOINC 21636-6 | This test evaluates the NR1H4 gene for pathogenic variants associated with infantile cholestasis and PFIC5. | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| NSMF Gene Hypogonadotropic Hypogonadism Genetic Test TEST-3408 LOINC 81265-2 | This genetic test identifies pathogenic variants in the NSMF gene associated with congenital hypogonadotropic hypogonadism (CHH). | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| NSUN2 Gene Mental Retardation, Autosomal Recessive Type 5 Genetic Test TEST-4989 LOINC 81413-9 | This test analyzes the NSUN2 gene to detect pathogenic variants associated with autosomal recessive intellectual disability type 5. | Peripheral Whole Blood, Extracted DNA, or FTA Card Blood Spot | 15–20 Business Days | 2,800.00 AED | Details |
| Nx Gen Sequencing: Alkaptonuria Test TEST-2707 LOINC 88040-2 | This test identifies disease-causing variants in the HGD gene to confirm a molecular diagnosis of alkaptonuria. | Peripheral Whole Blood | 40 working days | 2,600.00 AED | Details |
| NxGen Sequencing for Dravet Syndrome & Early Infantile Epileptic Encephalopathy (EIEE) Test TEST-2745 LOINC 95406-2 | This diagnostic test evaluates for pathogenic variants in genes associated with Dravet syndrome and Early Infantile Epileptic Encephalopathies (EIEE). | Peripheral Whole Blood (10 mL in Lavender-Top EDTA Tubes) | 40 Working Days | 2,600.00 AED | Details |
| ORC1 Gene Meier-Gorlin Syndrome Type 1 Genetic Test TEST-2599 LOINC 81247-9 | This genetic test detects pathogenic variants in the ORC1 gene, which are linked to Meier-Gorlin syndrome type 1. | Whole Blood (EDTA) or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| PACS1 Gene Sequencing (Intellectual Disability, Autosomal Dominant Type 17) Genetic Test TEST-4813 LOINC 59042-0 | This test evaluates the PACS1 gene for pathogenic variants associated with autosomal dominant intellectual disability type 17. | Peripheral whole blood (EDTA) or dried blood spot (FTA card) | 21–28 business days (3–4 weeks) | 2,800.00 AED | Details |
| PALB2 Gene Fanconi Anemia Type N Genetic Test (NGS) TEST-6287 LOINC 21666-7 | This test identifies pathogenic variants in the PALB2 gene associated with Fanconi anemia type N and increased risk for hereditary breast and pancreat... | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| PAX8 Gene Hypothyroidism, Congenital Nongoitrous Type 2, Familial Test TEST-3744 LOINC 21601-8 | This genetic test evaluates the PAX8 gene for pathogenic variants associated with congenital non-goitrous hypothyroidism type 2. | Whole blood (EDTA) or Buccal swab (DNA FTA card) | 3 – 4 weeks | 2,800.00 AED | Details |
| PFN1 Gene Sequencing for Amyotrophic Lateral Sclerosis Type 18 (ALS18) Test TEST-3803 LOINC 21612-4 | This test analyzes the entire PFN1 gene for mutations linked to Amyotrophic Lateral Sclerosis type 18 (ALS18). | Whole Blood (EDTA) | 3–4 weeks | 2,800.00 AED | Details |
| PHC1 Gene Microcephaly Autosomal Recessive Type 11 Genetic Test TEST-2564 LOINC 21726-5 | This test identifies pathogenic mutations in the PHC1 gene associated with autosomal recessive microcephaly type 11. | Peripheral whole blood (venous or capillary) | 3–4 weeks (priority processing) | 2,800.00 AED | Details |
| PHKG2 Gene (Glycogen Storage Disease Type IXc) Genetic Test TEST-6327 LOINC 92876-8 | This genetic test identifies pathogenic variants in the PHKG2 gene associated with Glycogen Storage Disease Type IXc (GSD IXc). | Peripheral Whole Blood (EDTA tube or FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| PHOX2B Gene Central Hypoventilation Syndrome (CCHS) with or without Hirschsprung Disease Test TEST-3012 LOINC 82305-2 | This test analyzes the PHOX2B gene to detect mutations associated with Congenital Central Hypoventilation Syndrome (CCHS) and Hirschsprung disease. | Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| PIGQ Gene Neurodevelopmental Disorder Genetic Test TEST-5430 LOINC 21636-6 | This genetic test evaluates the PIGQ gene for pathogenic variants associated with neurodevelopmental disorders. | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| PIK3R2 Gene Sequencing for Megalencephaly‑Polymicrogyria‑Polydactyly‑Hydrocephalus Syndrome (MPPH) Test TEST-2605 LOINC 95199-8 | This diagnostic test evaluates the PIK3R2 gene for mutations associated with Megalencephaly‑polymicrogyria‑polydactyly‑hydrocephalus syndrome (MPPH).... | Peripheral Whole Blood (EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| PKD1L1 Gene Heterotaxy, Visceral Type 8, Autosomal Genetic Test TEST-2782 LOINC 93338-0 | This genetic test analyzes the PKD1L1 gene to detect mutations associated with autosomal recessive visceral heterotaxy type 8 (HTX8). It identifies pa... | Whole Blood | 3 – 4 weeks (routine) | 2,800.00 AED | Details |
| PLEC Gene Sequencing (EBS-PA) Test TEST-5168 LOINC 82939-0 | This test analyzes the PLEC gene to detect mutations associated with Epidermolysis Bullosa Simplex with Pyloric Atresia (EBS-PA). | Whole Blood (EDTA), Extracted Genomic DNA, or FTA Card | 22–28 business days | 2,800.00 AED | Details |
| PRKCSH Gene Polycystic Liver Disease Genetic Test TEST-3537 LOINC 88544-6 | This genetic test identifies pathogenic variants in the PRKCSH gene associated with Autosomal Dominant Polycystic Liver Disease (ADPLD). | Whole Blood (EDTA) or Saliva (Oragene DNA Kit) | 21–28 Business Days (3–4 Weeks) | 2,800.00 AED | Details |
| PRKD1 Gene Congenital Heart Defects and Ectodermal Dysplasia Genetic Test TEST-4225 LOINC 80336-9 | This genetic test evaluates the PRKD1 gene for variants associated with congenital heart defects and ectodermal dysplasia. | Whole Blood (Peripheral), DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| PROK2 Gene Kallmann Syndrome Type 4 Genetic Test TEST-2692 LOINC 55233-1 | This genetic test identifies mutations in the PROK2 gene associated with Kallmann syndrome type 4, characterized by hypogonadotropic hypogonadism and... | Whole blood, extracted DNA, or FTA card blood spot | 3–4 weeks | 2,800.00 AED | Details |
| PSMB8 Gene Genetic Test for Autoinflammation, Lipodystrophy, and Dermatosis Syndrome TEST-5367 LOINC 21675-8 | This test identifies pathogenic variants in the PSMB8 gene, which are associated with Autoinflammation, Lipodystrophy, and Dermatosis Syndrome (ALDD). | Peripheral Whole Blood | 3 – 4 Weeks | 2,800.00 AED | Details |
| PTS Gene Sequencing for BH4-Deficient Hyperphenylalaninemia Type A Test TEST-6203 LOINC 21768-8 | This test identifies disease-causing mutations in the PTS gene responsible for BH4-deficient hyperphenylalaninemia type A. | Whole Blood (EDTA) or DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test TEST-2523 LOINC 98979-8 | This genetic test identifies pathogenic variants in the PUS1 gene associated with mitochondrial myopathy and sideroblastic anemia type 1 (MLASA1). | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| QARS1 Gene Sequencing Test (Microcephaly, Progressive Seizures, Cerebral‑Cerebellar Atrophy) TEST-2544 LOINC 55233-1 | This test identifies pathogenic variants in the QARS1 gene associated with microcephaly, progressive seizures, and cerebral-cerebellar atrophy. | Peripheral Whole Blood (EDTA) or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| RAB3GAP1 Gene Warburg Micro Syndrome Type 1 Genetic Test TEST-5957 LOINC 94252-9 | This test evaluates the RAB3GAP1 gene for pathogenic variants associated with Warburg micro syndrome type 1. | Whole Blood (EDTA) or Extracted DNA | 3-4 Weeks | 2,800.00 AED | Details |
| RAB3GAP2 Gene (Warburg Micro Syndrome Type 2) NGS Test TEST-2200 LOINC 77907-3 | This test evaluates the RAB3GAP2 gene for pathogenic variants associated with Warburg Micro Syndrome Type 2. | Peripheral whole blood (EDTA), buccal swab, or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| RAD21 Gene Cornelia de Lange Syndrome Type 4 Genetic Test TEST-5255 LOINC 81265-0 | This genetic test identifies pathogenic variants in the RAD21 gene associated with Cornelia de Lange syndrome type 4. | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| REN Gene Renal Tubular Dysgenesis Genetic Test TEST-3482 LOINC 82949-8 | This test identifies pathogenic variants in the REN gene, confirming a diagnosis of autosomal recessive renal tubular dysgenesis. | Whole Blood (EDTA) or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| RET Gene Central Hypoventilation Syndrome, Congenital Genetic Test TEST-2985 LOINC 21636-6 | This test identifies pathogenic variants in the RET proto-oncogene associated with Congenital Central Hypoventilation Syndrome (CCHS) and Hirschsprung... | Whole blood (EDTA), FTA card, or extracted genomic DNA | 3–4 Weeks | 2,800.00 AED | Details |
| RFT1 Gene Congenital Disorder of Glycosylation Type 1N (CDG-1N) Genetic Test TEST-6297 LOINC 81264-5 | This genetic test identifies pathogenic variants in the RFT1 gene associated with Congenital Disorder of Glycosylation Type 1N (CDG-1N). | Whole Blood (EDTA) or Buccal Swab | 21–28 Calendar Days (3–4 Weeks) | 2,800.00 AED | Details |
| RNASET2 Gene Leukoencephalopathy, Cystic Without Megalencephaly Genetic Test TEST-4792 LOINC 94891-7 | This genetic test evaluates the RNASET2 gene for pathogenic variants associated with cystic leukoencephalopathy without megalencephaly. | Peripheral whole blood (EDTA tube) | 3–4 weeks | 2,800.00 AED | Details |
| ROR2 Gene Brachydactyly Type B1 Genetic Test TEST-3043 LOINC 81321-1 | This test identifies pathogenic variants within the ROR2 gene associated with autosomal dominant Brachydactyly Type B1. | Whole Blood (3–5 mL, EDTA tube), Extracted DNA (≥1 µg, ≥50 ng/µL), One Drop Blood on FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| ROR2 Gene Sequencing for Robinow Syndrome (Autosomal Recessive) Test TEST-2388 LOINC 82939-0 | This diagnostic test evaluates the ROR2 gene for pathogenic variants associated with autosomal recessive Robinow syndrome. | Peripheral Whole Blood (EDTA), Buccal Swab, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| RPS28 Gene Diamond‑Blackfan Anemia Type 15 with Mandibulofacial Dysostosis Genetic Test TEST-2877 LOINC 92811-2 | This diagnostic test evaluates the RPS28 gene for pathogenic variants linked to Diamond-Blackfan anemia type 15 and mandibulofacial dysostosis. | Whole Blood, Extracted DNA, FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| RTN2 Gene (SPG12) Genetic Test TEST-5724 LOINC 21665-1 | This test identifies pathogenic variants within the RTN2 gene associated with autosomal dominant hereditary spastic paraplegia type 12 (SPG12). | Peripheral Whole Blood (3–5 mL EDTA) or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| SARS2 Gene Genetic Test (NGS) for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis TEST-3738 LOINC 81264-9 | This test identifies pathogenic variants in the SARS2 gene associated with HUPRA syndrome. | Peripheral Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| SCN2A Gene Dravet Syndrome Genetic Test TEST-4220 LOINC 81378-8 | This genetic test detects pathogenic variants in the SCN2A gene, providing a molecular diagnosis for Dravet syndrome. | Whole blood, extracted DNA, or FTA card | 3 – 4 Weeks | 2,800.00 AED | Details |
| SCNN1B Gene Pseudohypoaldosteronism Type 1 Genetic Test TEST-3557 LOINC 83096-1 | This genetic test identifies pathogenic variants in the SCNN1B gene associated with autosomal recessive pseudohypoaldosteronism type 1 (PHA1). It help... | Whole blood (EDTA), extracted DNA, or capillary blood on FTA card | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| SDHAF1 Gene Mitochondrial Complex II Deficiency Genetic Test TEST-5153 LOINC 92977-1 | This genetic test detects pathogenic variants in the SDHAF1 gene associated with Mitochondrial Complex II Deficiency. | Peripheral Whole Blood (EDTA) or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| SFTPD Gene Surfactant Metabolism Dysfunction Genetic Test TEST-5805 LOINC 97648-4 | This genetic test evaluates the SFTPD gene for pathogenic variants associated with surfactant metabolism dysfunction, a rare cause of neonatal respira... | Whole blood (EDTA), extracted DNA, or dried blood spot on FTA card | 21–28 calendar days | 2,800.00 AED | Details |
| SIX3 Gene Holoprosencephaly Type 2 Genetic Test TEST-2755 LOINC 88040-1 | This test identifies germline mutations within the SIX3 gene associated with Holoprosencephaly Type 2 (HPE2). It provides comprehensive exon-level cov... | Peripheral whole blood, buccal swab, or extracted DNA (FTA card acceptable) | 3 to 4 Weeks | 2,800.00 AED | Details |
| SKI Gene Shprintzen‑Goldberg Syndrome Genetic Test TEST-2308 LOINC 21636-6 | This test detects pathogenic variants in the SKI gene associated with Shprintzen-Goldberg syndrome. | Peripheral Whole Blood | 3 to 4 Weeks | 2,800.00 AED | Details |
| SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency Genetic Test TEST-4170 LOINC 83306-2 | This test identifies pathogenic variants in the SLC25A3 gene, which are associated with mitochondrial phosphate carrier deficiency. | Whole blood (FTA card or EDTA tube) | 3–4 weeks | 2,800.00 AED | Details |
| SLC35A2 Gene Glycosylation Disorder Type 2M Genetic Test TEST-6326 LOINC 102911-8 | This test identifies pathogenic variants in the SLC35A2 gene, confirming a diagnosis of Congenital Disorder of Glycosylation Type II (CDG-II). | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| SLC52A3 Gene (Brown-Vialetto-Van Laere Syndrome Type 1) Genetic Test TEST-5736 LOINC 81247-7 | This genetic test identifies pathogenic variants in the SLC52A3 gene associated with Brown-Vialetto-Van Laere syndrome type 1. | Whole Blood (EDTA), Extracted DNA, or FTA Card (Peripheral Blood) | 3-4 Weeks | 2,800.00 AED | Details |
| SLC5A2 Gene Renal Glucosuria Genetic Test TEST-3500 LOINC 90401-5 | This genetic test identifies pathogenic variants in the SLC5A2 gene, confirming the diagnosis of familial renal glucosuria. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| SLURP1 Gene Mal de Meleda Genetic Test TEST-4803 LOINC 21637-4 | This test identifies pathogenic variants in the SLURP1 gene associated with Mal de Meleda. | Peripheral Whole Blood | 3–4 weeks | 2,800.00 AED | Details |
| SMAD2 Gene Sequencing for Thoracic Aortic Aneurysm Dissection Test TEST-4092 LOINC 94037-6 | This test evaluates the SMAD2 gene for pathogenic variants associated with inherited thoracic aortic aneurysm and dissection syndromes. | Peripheral whole blood | 3–4 Weeks | 2,800.00 AED | Details |
| SMS Gene Snyder-Robinson Syndrome Genetic Test TEST-5081 LOINC 55233-1 | This test evaluates the SMS gene for pathogenic variants associated with Snyder-Robinson syndrome. | Whole Blood (EDTA) or Extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| SNAI2 Gene (Waardenburg Syndrome Type 2D) Next-Generation Sequencing (Genetic Test TEST-5854 LOINC 21636-6 | This genetic test analyzes the SNAI2 gene to detect variants associated with Waardenburg syndrome type 2D. | Peripheral whole blood (3–5 mL in EDTA lavender-top tube) or saliva (Oragene DNA collection kit) | 3–4 Weeks | 2,800.00 AED | Details |
| SNCA Gene Dementia & Lewy Body Genetic Test TEST-4199 LOINC 73518-2 | This test evaluates the SNCA gene for pathogenic variants associated with Lewy body dementia and Parkinson's disease dementia. | Whole blood, extracted DNA, or dry blood spot (FTA card) | 3–4 weeks (21–28 days) | 2,800.00 AED | Details |
| SOX17 Gene Vesicoureteral Reflux Type 3 Genetic Test TEST-3449 LOINC 21665-7 | This test identifies genetic mutations in the SOX17 gene associated with Vesicoureteral Reflux Type 3. | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| SP110 Gene Hepatic Veno-Occlusive Disease with Immunodeficiency Genetic Test TEST-3798 LOINC 81314-5 | This genetic test identifies disease-causing mutations in the SP110 gene associated with Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI). | Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| SPTB Gene Spherocytosis Type 2 Genetic Test TEST-3168 LOINC 81316-6 | This test identifies pathogenic mutations within the SPTB gene associated with Hereditary Spherocytosis Type 2. | Peripheral Whole Blood, FTA Card, or Isolated Genomic DNA | 3 to 4 Weeks (19–28 Business Days) | 2,800.00 AED | Details |
| SRCAP Gene Floating-Harbor Syndrome Genetic Test TEST-5069 LOINC 81247-9 | This test identifies pathogenic variants within the SRCAP gene associated with Floating-Harbor syndrome. | Whole Blood, Extracted DNA, or FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| STT3A Gene Congenital Disorder of Glycosylation Type Iw Genetic Test TEST-6278 LOINC 55233-1 | This genetic test identifies pathogenic variants in the STT3A gene, confirming a diagnosis of Congenital Disorder of Glycosylation Type Iw (CDG-Iw). | Whole Blood (EDTA tube, 3–5 mL), Extracted DNA (minimum 1 µg at ≥50 ng/µL), or One Drop of Blood on FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| SULT2B1 Gene Polycystic Ovary Syndrome Type 1 Genetic Test TEST-3533 LOINC 82610-3 | This genetic test identifies pathogenic variants within the SULT2B1 gene associated with Polycystic Ovary Syndrome Type 1. | Peripheral Blood (FTA Card or Venous) | 3–4 Weeks | 2,800.00 AED | Details |
| TBX1 Gene DiGeorge Syndrome Genetic Test TEST-2873 LOINC 93936-1 | This test evaluates the TBX1 gene for pathogenic variants associated with DiGeorge syndrome. | Peripheral Whole Blood (3–5 mL in EDTA tube); also accepts extracted genomic DNA (≥1 µg) or FTA card blood spot | 3–4 Weeks | 2,800.00 AED | Details |
| TBX5 Full-Length Gene Sequence Analysis (Holt-Oram Syndrome) Test TEST-1088 LOINC 77130-7 | This test analyzes the entire coding region of the TBX5 gene to identify mutations associated with Holt-Oram syndrome. | Peripheral Blood or Prenatal Specimen (Amniotic Fluid, Chorionic Villi, Cord Blood) | 4–6 weeks | 5,000.00 AED | Details |
| TBXAS1 Gene Ghosal Hematodiaphyseal Syndrome Genetic Test TEST-5090 LOINC 91898-8 | This test analyzes the TBXAS1 gene to detect pathogenic variants associated with Ghosal Hematodiaphyseal Syndrome. | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| TCTN2 Gene (Meckel Syndrome Type 8) Genetic Test TEST-3642 LOINC 21636-6 | This genetic test evaluates the TCTN2 gene for pathogenic variants associated with Meckel syndrome type 8. | Peripheral Blood (Whole Blood) | 3–4 Weeks | 2,800.00 AED | Details |
| TERT Gene Dyskeratosis Congenita Genetic Test TEST-5200 LOINC 48018-6 | This genetic test evaluates the TERT gene for mutations associated with Dyskeratosis Congenita, a disorder affecting telomere maintenance. | Whole Blood (EDTA), FTA card, or extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| TERT Gene Sequencing (NGS) for Pulmonary Fibrosis & Bone Marrow Failure Telomeropathy Test TEST-4624 LOINC 82182-7 | This test analyzes the TERT gene for mutations associated with pulmonary fibrosis and bone marrow failure syndromes. | Peripheral Whole Blood (EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| TGFBR1 Gene Sequencing for Marfan Syndrome Test TEST-4795 LOINC 81763-4 | This test sequences the entire TGFBR1 gene to identify pathogenic variants associated with Marfan syndrome and related connective tissue disorders. | Peripheral whole blood (2 mL EDTA) or buccal swab | 3–4 weeks | 2,800.00 AED | Details |
| TGFBR2 Gene Aortic Aneurysm, Familial Thoracic Type 3 Genetic Test TEST-4066 LOINC 81408-6 | This test identifies genetic variants in the TGFBR2 gene associated with an increased risk of familial thoracic aortic aneurysm type 3. | Peripheral Whole Blood (5–10 mL) | 3 – 4 Weeks | 2,800.00 AED | Details |
| TGFBR2 Gene Genetic Test (Loeys‑Dietz Syndrome Type 2 / Marfanoid Syndromes) TEST-4809 LOINC 76023-6 | This test evaluates the TGFBR2 gene for mutations associated with Loeys-Dietz syndrome type 2 and related connective tissue disorders. | Whole blood (3-5 mL), extracted DNA (2 µg), or FTA card | 3 to 4 weeks | 2,800.00 AED | Details |
| THAP1 (DYT6) Gene Sequencing Test (NGS) TEST-4270 LOINC 93973-3 | This diagnostic test evaluates the THAP1 gene for pathogenic variants associated with early-onset primary dystonia (DYT6). It identifies mutations res... | Peripheral Whole Blood (EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| THBD Gene Hemolytic Uremic Syndrome Genetic Test TEST-3763 LOINC 21683-2 | This test analyzes the THBD gene for pathogenic variants associated with atypical hemolytic uremic syndrome (aHUS). It uses next-generation sequencing... | Whole blood (EDTA), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| TSEN54 Gene Pontocerebellar Hypoplasia Type 4 Genetic Test TEST-5595 LOINC 94222-4 | This genetic test sequences the TSEN54 gene to detect pathogenic variants associated with Pontocerebellar Hypoplasia Type 4 (PCH4). It aids in the dia... | Peripheral Whole Blood, FTA Card, or Extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis Genetic Test TEST-3286 LOINC 94857-8 | This test analyzes the TSR2 gene for variants causing Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis. | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| TTBK2 Gene Spinocerebellar Ataxia Type 11, Autosomal Dominant Genetic Test TEST-5745 LOINC 95134-8 | This genetic test identifies pathogenic variants in the TTBK2 gene associated with autosomal dominant spinocerebellar ataxia type 11 (SCA11). It uses... | Whole blood, DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| TTR Gene Amyloidosis Genetic Test TEST-3783 LOINC 82939-0 | This test identifies pathogenic variants in the TTR gene associated with hereditary transthyretin amyloidosis. | Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| TUBB2A Gene Cortical Dysplasia, Complex with Other Brain Malformations Type 5 Genetic Test TEST-4102 LOINC 21665-7 | This test identifies pathogenic variants in the TUBB2A gene associated with cortical dysplasia, complex with other brain malformations type 5. | Peripheral Whole Blood (2 EDTA tubes), FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| TWIST1 Gene Craniosynostosis Type 1 Genetic Test TEST-2915 LOINC 101261-4 | This test evaluates the TWIST1 gene for pathogenic variants associated with craniosynostosis syndromes like Saethre-Chotzen syndrome. | Whole blood (EDTA), FTA card, or extracted DNA | 3–4 weeks (expedited available) | 2,800.00 AED | Details |
| UMPS Gene Orotic Aciduria Genetic Test TEST-5961 LOINC 82863-9 | This test evaluates the UMPS gene for mutations associated with hereditary orotic aciduria, a rare metabolic disorder. | Peripheral Whole Blood (3-5 mL in EDTA tube) or Buccal Swab | 3 to 4 Weeks | 2,800.00 AED | Details |
| UVSSA Gene UV-Sensitive Syndrome Type 3 Genetic Test TEST-4509 LOINC 95821-3 | This test identifies pathogenic variants in the UVSSA gene associated with UV-sensitive syndrome type 3. | Blood, Extracted DNA, or One Drop Blood on FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| VSX1 Gene Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome Genetic Test TEST-2921 LOINC 21636-6 | This test evaluates the VSX1 gene for pathogenic variants associated with craniofacial anomalies and anterior segment dysgenesis syndrome. | Peripheral Whole Blood (Venipuncture) | 3 to 4 Weeks | 2,800.00 AED | Details |
| WDR27 Gene Sequencing for Brain Disorders (Genetic Test) TEST-5866 LOINC 81322-1 | This test analyzes the entire WDR27 gene to identify pathogenic variants associated with hereditary neurological disorders. | Whole Blood, FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| WNT10A Gene Odontoonychodermal Dysplasia Genetic Test TEST-4738 LOINC 82870-0 | This genetic test analyzes the WNT10A gene to identify mutations associated with odontoonychodermal dysplasia. | Peripheral Blood (Whole Blood) | 3–4 weeks | 2,800.00 AED | Details |
| XBP1 Gene Genetic Testing for Major Affective Disorders Test TEST-4755 LOINC 98538-4 | This test identifies genetic variants in the XBP1 gene associated with an increased risk of developing major affective disorders. | Peripheral Whole Blood (3–5 mL EDTA tube) or DNA FTA Card | 21–28 Days (3 to 4 Weeks) | 2,800.00 AED | Details |
| XK Gene Genetic Test for McLeod Syndrome & CGD TEST-2610 LOINC 74500-4 | This test evaluates the XK gene for pathogenic variants associated with McLeod syndrome and assesses for contiguous deletions involving the CYBB gene... | Whole Blood (EDTA tube), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| YARS1 Gene DI‑CMTC Genetic Test TEST-4164 LOINC 51966-5 | This test evaluates the entire coding sequence of the YARS1 gene for pathogenic variants associated with DI‑CMTC. | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| YARS2 Gene Myopathy, Lactic Acidosis, and Sideroblastic Anemia Type 2 Genetic Test TEST-5259 LOINC 101645-1 | This genetic test analyzes the YARS2 gene to identify mutations causing Myopathy, Lactic Acidosis, and Sideroblastic Anemia type 2 (MLASA2). | Peripheral Whole Blood (EDTA) or Buccal Swab / FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| ZBTB24 Gene ICF Syndrome Type 2 Genetic Test TEST-2711 LOINC 81247-9 | This diagnostic test evaluates the ZBTB24 gene for pathogenic variants associated with Immunodeficiency-Centromeric Instability-Facial Anomalies Syndr... | Whole blood, extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| ZBTB24 Gene ICF Syndrome Type 2 Genetic Testing Test TEST-4887 LOINC 92747-3 | This diagnostic test evaluates the ZBTB24 gene for mutations associated with Immunodeficiency-Centromeric Instability-Facial Anomalies (ICF) Syndrome... | Peripheral Whole Blood (EDTA or FTA Card) | 3 – 4 Weeks | 2,800.00 AED | Details |
| ZMPSTE24 Gene Sequencing for Lethal Restrictive Dermopathy Test TEST-4608 LOINC 21665-7 | This test evaluates the ZMPSTE24 gene for pathogenic variants associated with lethal restrictive dermopathy. | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| ZSWIM6 Gene Acromelic Frontonasal Dysostosis Genetic Test TEST-3133 LOINC 81397-3 | This test identifies pathogenic variants in the ZSWIM6 gene associated with acromelic frontonasal dysostosis. | Peripheral whole blood, extracted DNA, or dried blood spot (FTA card) | 3-4 weeks | 2,800.00 AED | Details |
Clinical overview
About Genetic Sequencing
Achieving a definitive diagnosis for multi-system or exceptionally rare disorders requires reading the deepest layers of your foundational biological code. As the pinnacle of our advanced Genetics department, Genetic Sequencing (including Whole Exome or Whole Genome testing) provides an incredibly detailed, high-resolution scan of your DNA. By leveraging state-of-the-art Next-Generation Sequencing technology, this expansive molecular screening helps uncover elusive genetic variants that standard tests miss, safely guiding your healthcare provider in tailoring highly personalized medical treatments and opening doors to advanced precision medicine. Consistently trusted for advanced genomic analysis across premier diagnostic labs in Dubai and the UAE, DNA Labs ensures strict patient confidentiality, exceptional analytical precision, and highly efficient reporting. Secure the definitive insights your health requires—book your genetic sequencing testing in UAE, arrange a secure clinical sample collection, or consult our dedicated medical genetics experts.
Before your appointment
Preparation & sample collection
Follow the instructions you are given
Fasting, timing and medicine restrictions differ between investigations. The instructions for your specific request are confirmed when you book.
Bring your identification
A valid photo ID is required at collection so that your sample is matched correctly to your record.
Tell us about medicines
Prescription medicines, supplements and recent procedures can affect how an investigation is scheduled or interpreted — please mention them.
Ask before collection
If anything about preparation is unclear, contact us before your appointment. Preparation errors can affect reporting times.
Patient information
Frequently asked questions
Practical answers about Genetic 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 Genetic 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 Genetic 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 Genetic 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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