Genetics
Single 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.
3 min read
- Quality-controlled laboratory
- Home collection across the UAE
- Confidential handling of results
Compare options
Single Gene Sequencing investigations
All 297 investigations in this category are listed below.
| Test | What it measures | Specimen | Turnaround | Price | Book |
|---|---|---|---|---|---|
| AAAS Full Gene Sequence Analysis (Allogrove Syndrome) Test TEST-1877 LOINC 93307-9 | This test sequences the entire AAAS gene to detect mutations associated with Allogrove (Triple A) Syndrome. | Peripheral Whole Blood; Prenatal: Amniotic Fluid, Chorionic Villi, or Cord Blood | 2–3 Weeks | 4,000.00 AED | Details |
| ABCA1 Gene Tangier Disease Genetic Test TEST-5794 LOINC 94040-0 | This test evaluates the ABCA1 gene for pathogenic variants associated with Tangier disease. | Whole blood in EDTA | 3–4 weeks (21–28 business days) | 2,800.00 AED | Details |
| ABCB11 Gene Sequencing for Benign Recurrent Intrahepatic Cholestasis Type 2 (BRIC2) Test TEST-6194 LOINC 83900-7 | This test evaluates the ABCB11 gene for pathogenic variants associated with Benign Recurrent Intrahepatic Cholestasis Type 2 (BRIC2). | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| ABCD3 Gene Bile Acid Synthesis Defect Type 5, Congenital Genetic Test TEST-6138 LOINC 81247-9 | This test evaluates the ABCD3 gene for pathogenic variants associated with congenital bile acid synthesis defect type 5. | Peripheral whole blood | 3-4 weeks | 2,800.00 AED | Details |
| ACO2 Gene Cerebellar-Retinal Degeneration, Infantile Genetic Test TEST-3542 LOINC 81247-9 | This test identifies mutations in the ACO2 gene associated with infantile cerebellar-retinal degeneration. | Whole Blood (EDTA tube, 3–5 mL) | 3–4 Weeks (21–28 calendar days) | 2,800.00 AED | Details |
| ACTB Gene Dystonia (Juvenile-Onset) Genetic Test TEST-4180 LOINC 94872-2 | This genetic test detects pathogenic variants in the ACTB gene associated with juvenile-onset dystonia. | EDTA whole blood | 2–4 Weeks | 2,800.00 AED | Details |
| ACVR2B Gene Heterotaxy, Visceral Type 4 Genetic Test TEST-2789 LOINC 21652-6 | This test evaluates the ACVR2B gene for pathogenic variants associated with heterotaxy syndrome, visceral type 4. | Peripheral blood or saliva | 3–4 Weeks | 2,800.00 AED | Details |
| ADAM17 Gene Inflammatory Skin and Bowel Disease, Neonatal, Type 1 Genetic Test TEST-4874 LOINC 93025-5 | This genetic test identifies pathogenic variants in the ADAM17 gene associated with a rare neonatal syndrome. | Peripheral whole blood | 3 to 4 weeks | 2,800.00 AED | Details |
| ADGRG1 Gene Polymicrogyria Bilateral Frontoparietal Genetic Test TEST-2416 LOINC 98066-7 | This test detects pathogenic variants in the ADGRG1 gene associated with bilateral frontoparietal polymicrogyria. | Blood on DNA FTA card | 3 to 4 Weeks | 2,800.00 AED | Details |
| ADNP Gene Genetic Test for Mental Retardation (Autosomal Dominant Type 28) TEST-4932 LOINC 91847-4 | This test evaluates the ADNP gene for pathogenic variants associated with autosomal dominant intellectual disability (Helsmoortel‑van der Aa syndrome)... | Peripheral whole blood (3–5 mL in EDTA tube) | 3–4 weeks | 2,800.00 AED | Details |
| AGPAT2 Gene Lipodystrophy Generalized Type 1 Genetic Test TEST-6120 LOINC 82321-5 | This genetic test analyzes the AGPAT2 gene to identify mutations causing congenital generalized lipodystrophy type 1 (CGL1). It provides a definitive... | Peripheral whole blood (2–5 mL in EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| AHDC1 Gene Genetic Test (Intellectual Disability, Autosomal Dominant Type 25 / MRD25) TEST-4928 LOINC 96605-2 | This test sequences the AHDC1 gene to identify pathogenic variants responsible for Autosomal Dominant Intellectual Disability, Type 25 (MRD25). It is... | Peripheral whole blood (venous) | 3–4 Weeks | 2,800.00 AED | Details |
| AHNAK2 Gene Autism Spectrum Disorder NGS Test TEST-3845 LOINC 81321-9 | This test evaluates the AHNAK2 gene for pathogenic variants associated with autism spectrum disorder susceptibility. | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| AIRE Gene Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) Genetic Test TEST-5327 LOINC 82900-9 | This genetic test sequences the AIRE gene to detect pathogenic variants associated with Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1). It iden... | Whole Blood (Peripheral) | 3-4 Weeks | 2,800.00 AED | Details |
| ALDH3A2 Gene Sjögren-Larsson Syndrome Genetic Test TEST-5597 LOINC 55233-1 | This test evaluates the ALDH3A2 gene for pathogenic variants associated with Sjögren-Larsson syndrome. | Peripheral whole blood (3-5 mL in EDTA vacutainer) | 21 calendar days (standard) / 10 calendar days (expedited) | 2,800.00 AED | Details |
| ALDOA Gene Glycogen Storage Disease Type 12 (GSD XII) Genetic Test TEST-6381 LOINC 82847-5 | This genetic test identifies pathogenic variants in the ALDOA gene associated with Glycogen Storage Disease Type 12 (GSD XII). | Whole Blood (EDTA), Extracted DNA, or FTA Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| ALOX12B Gene Sequencing for Autosomal Recessive Congenital Ichthyosis Type 2 (Genetic Test) TEST-4956 LOINC 94471-6 | This genetic test detects pathogenic variants in the ALOX12B gene associated with autosomal recessive congenital ichthyosis type 2 (ARCI2). | Peripheral Whole Blood (EDTA), FTA Card Spot, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| ALX3 Gene Frontonasal Dysplasia Type 1 Genetic Test TEST-2826 LOINC 81247-9 | This genetic test evaluates the ALX3 gene for pathogenic variants associated with Type 1 frontonasal dysplasia. | Whole blood (EDTA), extracted DNA, or FTA card blood spot | 3 to 4 weeks | 2,800.00 AED | Details |
| AMT Gene Glycine Encephalopathy Genetic Test TEST-3836 LOINC 94222-5 | This test evaluates the AMT gene for pathogenic variants associated with glycine encephalopathy (nonketotic hyperglycinemia). It utilizes Next-Generat... | Peripheral Whole Blood, Blood Spot on FTA Card, or Extracted DNA | 21–28 Business Days | 2,800.00 AED | Details |
| ANKS3 Gene Autism Spectrum Disorder Genetic Test TEST-3877 LOINC 91854-2 | This test evaluates the ANKS3 gene for variants associated with Autism Spectrum Disorder (ASD). | Whole Blood (Peripheral Venipuncture) | 3–4 Weeks (21–28 Business Days) | 2,800.00 AED | Details |
| APOA2 Gene Apolipoprotein A‑II Deficiency Genetic Test TEST-6104 LOINC 21636-6 | This genetic test identifies pathogenic variants in the APOA2 gene associated with Apolipoprotein A‑II deficiency. | Peripheral whole blood (or FTA card) | 3-4 weeks | 2,800.00 AED | Details |
| ARSE Gene Chondrodysplasia Punctata, X-Linked Recessive Genetic Test TEST-5288 LOINC 94231-7 | This genetic test sequences the ARSE gene to identify pathogenic variants associated with X-linked recessive chondrodysplasia punctata (CDPX1). | Peripheral Whole Blood or Buccal Swab | 21 – 28 Business Days | 2,800.00 AED | Details |
| ASCL1 Gene Central Hypoventilation Syndrome, Congenital Test TEST-3001 LOINC 92824-5 | This diagnostic test evaluates the ASCL1 gene for pathogenic variants associated with Congenital Central Hypoventilation Syndrome (CCHS). It identifie... | Whole Blood (EDTA), Extracted DNA, FTA Card (One Drop) | 3 to 4 Weeks (Expedited Processing Available) | 2,800.00 AED | Details |
| ATP10A Gene Sequencing (NGS) Test TEST-3918 LOINC 94835-8 | This test evaluates the ATP10A gene for variants associated with neurodevelopmental disorders. | Peripheral Whole Blood, Saliva | 21–28 Days | 2,800.00 AED | Details |
| ATP6V0A2 Gene Sequencing for Autosomal Recessive Cutis Laxa Type 2A Test TEST-5274 LOINC 94805-5 | This test identifies pathogenic variants in the ATP6V0A2 gene, confirming a diagnosis of autosomal recessive cutis laxa type 2A. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| ATRX Gene Sequencing (NGS) for Alpha‑Thalassemia/Mental Retardation Syndrome Test TEST-3333 LOINC 84410-0 | This test identifies pathogenic variants in the ATRX gene associated with X-linked alpha-thalassemia/mental retardation syndrome. | Whole blood (3–5 mL in EDTA), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| B3GALT6 Gene Analysis (Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1) Test TEST-4557 LOINC 95240-3 | This test identifies pathogenic variants in the B3GALT6 gene, confirming a diagnosis of spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEM... | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| BBS2 Gene Bardet‑Biedl Syndrome Type 2 Genetic Test TEST-3951 LOINC 21636-6 | This test evaluates the BBS2 gene for pathogenic variants associated with Bardet-Biedl syndrome type 2. | Whole Blood, Extracted DNA, FTA Card (one drop) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| BHLHA9 Gene Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction Genetic Test TEST-2254 LOINC 94228-7 | This test evaluates the BHLHA9 gene for mutations associated with mesoaxial synostotic syndactyly with phalangeal reduction. | Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| BMPR1B Gene Brachydactyly Type A2 Genetic Test TEST-3023 LOINC 21635-7 | This test identifies pathogenic variants in the BMPR1B gene associated with Brachydactyly Type A2. | Peripheral Whole Blood or Dried Blood Spot (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| BMPR1B Gene Sequencing (NGS) Test TEST-2968 LOINC 82394-1 | This test evaluates the BMPR1B gene for pathogenic variants associated with acromesomelic chondrodysplasia with genital anomalies (AMCD2B). | Whole Blood (EDTA) or Buccal Swab | 3-4 Weeks | 2,800.00 AED | Details |
| BMPR2 Gene Pulmonary Veno-Occlusive Disease Type 1 Genetic Test TEST-3963 LOINC 48002-0 | This test evaluates the BMPR2 gene for pathogenic variants associated with pulmonary veno-occlusive disease and heritable pulmonary arterial hypertens... | Whole Blood, DNA, FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| BSCL2 (Seipin) Gene Progressive Encephalopathy with or without Lipodystrophy Genetic Test TEST-4387 LOINC 94800-0 | This genetic test evaluates the BSCL2 gene for mutations associated with progressive encephalopathy and congenital generalised lipodystrophy type 2. | Peripheral Whole Blood | 3 to 4 weeks | 2,800.00 AED | Details |
| C19orf12 Gene Genetic Test for NBIA4/MPAN TEST-5308 LOINC 55251-0 | This test evaluates the C19orf12 gene for pathogenic variants associated with Neurodegeneration with Brain Iron Accumulation Type 4 (NBIA4/MPAN). It i... | Peripheral Whole Blood (EDTA) or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| C7 Gene Deficiency Genetic Test TEST-5299 LOINC 95275-6 | This test identifies pathogenic variants in the C7 gene associated with hereditary complement component 7 deficiency. | Whole Blood (EDTA tube) or FTA Card (Dried Blood Spot) | 14–21 Business Days | 2,800.00 AED | Details |
| C7orf43 Gene Autism Genetic Test TEST-3886 LOINC 21636-1 | This test evaluates the C7orf43 gene for pathogenic variants associated with autism spectrum disorder. | Venous Whole Blood, Dried Blood Spot (FTA Card), or Extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| CACNA1B (DYT23) Gene NGS Test TEST-4254 LOINC 94705-0 | This test analyzes the CACNA1B gene for pathogenic variants associated with DYT23, an early-onset isolated dystonia. | Peripheral Whole Blood | 3 to 4 Weeks | 2,800.00 AED | Details |
| CACNA1D Gene Sequencing Test (Sinoatrial Node Dysfunction & Deafness) TEST-4106 LOINC 82939-0 | This test evaluates the CACNA1D gene for pathogenic variants associated with sinoatrial node dysfunction and deafness (SANDD). It identifies genetic m... | Peripheral whole blood (EDTA) or dried blood spot (FTA card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| CAPN1 Gene Sequencing (Muscular-Skeletal Disorders) Test TEST-5192 LOINC 21613-4 | This genetic test evaluates the CAPN1 gene for pathogenic variants associated with neuromuscular disorders. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| CC2D1A Gene Sequencing (Autosomal Recessive Intellectual Disability Type 3, MRT3) Test TEST-4969 LOINC 48018-6 | This test identifies pathogenic variants in the CC2D1A gene associated with Autosomal Recessive Intellectual Disability Type 3 (MRT3). | Whole Blood (EDTA), Extracted DNA, or Finger-Prick Blood Spot (FTA Card) | 21–28 Days | 2,800.00 AED | Details |
| CCDC28B Gene Bardet‑Biedl Syndrome Modifier NGS Test TEST-3885 LOINC 99058-9 | This test identifies pathogenic variants in the CCDC28B gene, a known modifier gene associated with Bardet‑Biedl syndrome. | Whole Blood (peripheral), FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| CCDC8 Gene Sequencing for 3‑M Syndrome Type 3 (NGS) Test TEST-2235 LOINC 76479-2 | This test analyzes the CCDC8 gene for pathogenic variants associated with 3-M syndrome type 3. | Whole Blood (2–3 mL) or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| CCM2 Gene Sequencing for Cerebral Cavernous Malformations Type 2 (Genetic Test) TEST-4020 LOINC 92966-6 | This genetic test analyzes the CCM2 gene to identify mutations associated with cerebral cavernous malformations type 2. | Peripheral blood (3–5 mL in EDTA tube), dried blood spot on FTA card, or extracted genomic DNA (≥1 µg at ≥50 ng/µL) | 3–4 weeks | 2,800.00 AED | Details |
| CD59 Gene Sequencing (NGS) Genetic Test TEST-3239 LOINC 90420-0 | This test analyzes the CD59 gene to detect pathogenic variants associated with CD59-mediated hemolytic anemia and immune-mediated polyneuropathy. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| CD81 Gene Immunodeficiency Common Variable Type 6 Genetic Test TEST-4946 LOINC 81247-9 | This test identifies pathogenic variants in the CD81 gene associated with Common Variable Immunodeficiency type 6 (CVID6). | Whole blood (EDTA), extracted DNA, or FTA card | 3 to 4 weeks | 2,800.00 AED | Details |
| CDC73 Gene Familial Parathyroid Adenoma with Cystic Changes Genetic Test TEST-3597 LOINC 21636-6 | This test evaluates the CDC73 gene for germline mutations associated with familial parathyroid adenoma with cystic changes, hyperparathyroidism-jaw tu... | Peripheral whole blood or FTA card (DNA) | 3–4 Weeks | 2,800.00 AED | Details |
| CDKN1C Gene IMAGE Syndrome Genetic Test TEST-2708 LOINC 93360-0 | This test analyzes the entire coding region of the CDKN1C gene using NGS to identify pathogenic variants associated with IMAGE syndrome. | Whole blood (EDTA), FTA card blood spot, or extracted genomic DNA | 3–4 weeks | 2,800.00 AED | Details |
| CENPJ Gene (MCPH6) Genetic Test TEST-2550 LOINC 81265-5 | This test identifies pathogenic variants in the CENPJ gene, confirming a diagnosis of autosomal recessive primary microcephaly type 6 (MCPH6). | Blood / FTA Card / Extracted DNA | 3 – 4 Weeks | 2,800.00 AED | Details |
| CEP135 Gene Sequencing for Autosomal Recessive Primary Microcephaly Type 8 (MCPH8) Test TEST-2545 LOINC 51968-1 | This diagnostic test evaluates the CEP135 gene for pathogenic variants associated with autosomal recessive primary microcephaly type 8 (MCPH8). | Peripheral Whole Blood (3–5 mL in EDTA) or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| CEP290 Gene Meckel Syndrome Type 4 Genetic Test TEST-3687 LOINC 82939-0 | This test detects pathogenic variants in the CEP290 gene associated with Meckel syndrome type 4. | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| CEP290 Gene Senior-Loken Syndrome Type 6 Genetic Test TEST-3519 LOINC 81301-3 | This test identifies pathogenic variants in the CEP290 gene associated with Senior-Loken syndrome type 6, characterized by kidney disease and vision l... | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| CEP63 Gene Microcephaly Genetic Test TEST-2540 LOINC 55232-0 | This test evaluates the CEP63 gene for pathogenic variants associated with primary microcephaly and Seckel syndrome. | Whole Blood (2-3 mL) or Buccal Swab / FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| CFAP53 Gene Heterotaxy, Visceral Type 6 Genetic Test TEST-2785 LOINC 55233-1 | This test identifies pathogenic variants in the CFAP53 gene associated with heterotaxy syndrome. | Whole blood (EDTA) | 3–4 weeks | 2,800.00 AED | Details |
| CFHR2 Gene Hemolytic Uremic Syndrome (HUS) Genetic Test TEST-3815 LOINC 94293-7 | This test identifies pathogenic mutations in the CFHR2 gene associated with atypical hemolytic uremic syndrome (aHUS). It uses next-generation sequenc... | Whole blood (EDTA tube), extracted DNA, FTA card blood spot | 3 – 4 weeks | 2,800.00 AED | Details |
| CITED2 Gene Atrial Septal Defect Type 8 Genetic Test TEST-4424 LOINC 21636-6 | This genetic test detects pathogenic variants in the CITED2 gene linked to atrial septal defect type 8 (ASD8). | Whole Blood, Oral Swab, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| CLCN7 Gene Osteopetrosis, Autosomal Dominant Type 1 Genetic Test TEST-4679 LOINC 21660-9 | This test identifies pathogenic variants in the CLCN7 gene associated with autosomal dominant osteopetrosis type 1. | Peripheral Whole Blood, Extracted DNA, or FTA Card Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| CLCNKB Gene Bartter Syndrome Type 3 Genetic Test TEST-3919 LOINC 55189-6 | This test evaluates the CLCNKB gene for pathogenic variants associated with Bartter syndrome type 3. | Peripheral whole blood (EDTA), extracted DNA, or FTA card | 3-4 Weeks | 2,800.00 AED | Details |
| CLMP Gene Congenital Short-Bowel Syndrome Genetic Test TEST-2944 LOINC 21636-3 | This test evaluates the CLMP gene for pathogenic variants associated with congenital short-bowel syndrome. | Whole blood (EDTA), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5 Genetic Test TEST-6182 LOINC 94220-4 | This test identifies pathogenic variants in the CLN5 gene associated with Neuronal Ceroid Lipofuscinosis type 5. | Peripheral Whole Blood (EDTA) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| COL2A1 Gene Czech Dysplasia Genetic Test TEST-2891 LOINC 83096-2 | This test evaluates the COL2A1 gene for mutations associated with Czech dysplasia, a type of skeletal dysplasia. | Peripheral whole blood or buccal swab | 3–4 Weeks | 2,800.00 AED | Details |
| COL2A1 Gene Platyspondylic Skeletal Dysplasia, Torrance Type Genetic Test TEST-2439 LOINC 81247-9 | This test identifies mutations in the COL2A1 gene, providing a definitive diagnosis for Torrance-type platyspondylic skeletal dysplasia. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| COLEC11 Gene 3MC Syndrome Type 2 Genetic Test TEST-5506 LOINC 100430-5 | This genetic test identifies pathogenic variants in the COLEC11 gene, confirming a diagnosis of 3MC syndrome type 2. | Blood (whole blood) or Dried Blood Spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| COMT Gene Catechol-O-Methyltransferase Deficiency Genetic Test TEST-6068 LOINC 90535-9 | This genetic test evaluates the entire COMT gene for pathogenic variants linked to catechol-O-methyltransferase deficiency. | Peripheral Whole Blood (EDTA) or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| CORO1A Gene (Immunodeficiency Type 8) Genetic Test TEST-4883 LOINC 82266-3 | This test identifies pathogenic variants in the CORO1A gene, confirming a diagnosis of severe combined immunodeficiency type 8. | Peripheral whole blood | 3–4 Weeks | 2,800.00 AED | Details |
| COX20 Gene Ataxia and Muscle Hypotonia Genetic Test TEST-3846 LOINC 101398-2 | This test identifies pathogenic variants in the COX20 gene associated with mitochondrial complex IV deficiency, cerebellar ataxia, and muscle hypotoni... | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| CRB2 Gene Ventriculomegaly with Cystic Kidney Disease Genetic Test TEST-5850 LOINC 101650-8 | This genetic test identifies pathogenic variants in the CRB2 gene associated with ciliopathies affecting brain and kidney development. | Peripheral Whole Blood or Saliva (Oragene DNA Kit) | 21 – 28 Days | 2,800.00 AED | Details |
| Crigler-Najjar Syndrome Single Gene Sequencing Test TEST-1685 LOINC 21626-6 | This test identifies mutations in the UGT1A1 gene, which are the cause of Crigler-Najjar syndrome, a rare inherited disorder affecting bilirubin metab... | Whole Blood (peripheral) | 7–8 working days | 3,600.00 AED | Details |
| CROCC Gene Sequencing Test TEST-5417 LOINC 55233-1 | This test detects pathogenic variants in the CROCC gene associated with neurodevelopmental disorders. | Peripheral Whole Blood | 3–4 weeks | 2,800.00 AED | Details |
| CRPPA Gene (Walker-Warburg Syndrome) Genetic Test TEST-5858 LOINC 21636-6 | This genetic test evaluates the entire coding region of the CRPPA gene for pathogenic variants associated with Walker-Warburg syndrome. | Whole Blood (EDTA), Extracted DNA, FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| CUL4B Gene Mental Retardation, X‑Linked Type 15 DNA Test TEST-4907 LOINC 21636-6 | This test detects pathogenic variants in the CUL4B gene associated with X-linked intellectual disability type 15. | Peripheral Whole Blood, Extracted Genomic DNA, or FTA Card Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| CYLD Gene Analysis for Spiegler-Brooke Syndrome (NGS) Test TEST-1894 LOINC 83403-4 | This test detects germline mutations in the CYLD gene, which are associated with Spiegler-Brooke syndrome (multiple familial trichoepithelioma). It he... | Whole Blood (EDTA), Buccal Swab, or Dried Blood Spot (FTA Card) | 21–28 Days | 2,800.00 AED | Details |
| DCAF17 Gene Sequencing (Woodhouse-Sakati Syndrome) Genetic Test TEST-2720 LOINC 21600-8 | This genetic test sequences the DCAF17 gene to detect variants associated with Woodhouse-Sakati syndrome. | Whole Blood (EDTA), Buccal Swab, or Dried Blood Spot (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| DIAPH3 Gene Auditory Neuropathy (Autosomal Dominant) Genetic Test TEST-5797 LOINC 19239-6 | This test identifies pathogenic variants in the DIAPH3 gene associated with autosomal dominant auditory neuropathy spectrum disorder (ANSD). | Peripheral whole blood (5 mL) or buccal swab | 3 to 4 Weeks | 2,800.00 AED | Details |
| DIS3L2 Gene Perlman Syndrome Genetic Test TEST-2453 LOINC 99534-4 | This test evaluates the DIS3L2 gene for pathogenic variants associated with Perlman syndrome. | Peripheral Whole Blood (EDTA) or Extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| DISP1 Gene Craniofacial & Neurodevelopmental Abnormalities Genetic Test TEST-2926 LOINC 76679-8 | This test evaluates the DISP1 gene for pathogenic variants associated with craniofacial malformations and neurodevelopmental delay. | Peripheral whole blood | 3–4 Weeks | 2,800.00 AED | Details |
| DLX3 Gene Sequencing Test for Amelogenesis Imperfecta Type 4 TEST-5429 LOINC 88715-7 | This test evaluates the DLX3 gene for pathogenic variants associated with Amelogenesis Imperfecta Type 4 (AI4) and Tricho-Dento-Osseous (TDO) syndrome... | Whole blood (EDTA), extracted DNA, dried FTA card, buccal swab | 3 – 4 weeks | 2,800.00 AED | Details |
| DNAJC19 Gene (3‑Methylglutaconic Aciduria Type 5) Genetic Test TEST-5930 LOINC 80866-8 | This test identifies pathogenic variants in the DNAJC19 gene associated with 3-methylglutaconic aciduria type 5. | Peripheral blood, Extracted DNA, or FTA card (dried blood spot) | 3–4 weeks | 2,800.00 AED | Details |
| DNAL1 Gene Primary Ciliary Dyskinesia Type 16 Genetic Test TEST-5519 LOINC 94222-1 | This genetic test analyzes the DNAL1 gene to identify mutations associated with primary ciliary dyskinesia type 16. | Peripheral Whole Blood (or extracted DNA / FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| DNASE1 Gene Systemic Lupus Erythematosus Genetic Test TEST-4547 LOINC 81265-1 | This test identifies pathogenic mutations in the DNASE1 gene, which are associated with a specific form of monogenic Systemic Lupus Erythematosus (SLE... | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| DNMT3B Gene Immunodeficiency‑Centromeric Instability‑Facial Anomalies Syndrome Type 1 Genetic Test TEST-4876 LOINC 81261-6 | This genetic test analyzes the DNMT3B gene to detect mutations associated with Immunodeficiency‑Centromeric Instability‑Facial Anomalies Syndrome Type... | Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| DOCK8 Gene Mental Retardation, Autosomal Dominant Type 2 Genetic Test TEST-4919 LOINC 31208-2 | This test detects pathogenic variants in the DOCK8 gene associated with autosomal dominant intellectual disability type 2. | Whole Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| DOLK Gene (Glycosylation Disorder Type 1M) Genetic Test TEST-4542 LOINC 51966-8 | This test identifies pathogenic variants in the DOLK gene associated with Congenital Disorder of Glycosylation Type 1M (CDG-Im). | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| DSG1 Gene Sequencing (Erythroderma, Palmoplantar Keratoderma, Hypotrichosis, Hyper-IgE Syndrome) Test TEST-5089 LOINC 94887-6 | This test evaluates the DSG1 gene for pathogenic variants associated with a rare autosomal recessive syndrome. | Whole Blood (EDTA) or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| DSPP Gene (Deafness, Autosomal Dominant Type 39 with Dentinogenesis Type I) Genetic Test TEST-5753 LOINC 100374-6 | This genetic test identifies pathogenic variants in the DSPP gene, confirming the diagnosis of autosomal dominant deafness type 39 with dentinogenesis... | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks from sample receipt | 2,800.00 AED | Details |
| DYM Gene Smith‑McCort Dysplasia Genetic Test (NGS) TEST-4549 LOINC 94091-7 | This genetic test sequences the DYM gene to identify pathogenic variants associated with Smith-McCort dysplasia. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| DYNC1H1 Gene Intellectual Disability, Autosomal Dominant Type 13 Genetic Test TEST-2592 LOINC 82939-5 | This genetic test identifies pathogenic variants within the DYNC1H1 gene associated with Autosomal Dominant Intellectual Disability Type 13. | Peripheral whole blood (3 mL EDTA) or dried blood spot (FTA card) | 3 to 4 weeks from sample receipt | 2,800.00 AED | Details |
| DYNC2H1 Gene Sequencing for Short-Rib Thoracic Dysplasia Type 3 (With or Without Polydactyly) Test TEST-2322 LOINC 94854-3 | This diagnostic test evaluates the DYNC2H1 gene for pathogenic variants associated with short-rib thoracic dysplasia type 3 (SRTD3). | Whole Blood (peripheral) or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| EBP Gene Chondrodysplasia Punctata (CDPX2) Genetic Test TEST-5330 LOINC 81247-9 | This genetic test identifies pathogenic variants in the EBP gene, confirming X-linked dominant chondrodysplasia punctata. | Whole Blood (EDTA) or FTA Card Dried Blood Spot | 3–4 weeks | 2,800.00 AED | Details |
| EEF1A2 Gene (Autosomal Dominant Intellectual Disability Type 38) Next-Generation Sequencing Genetic Test TEST-4840 LOINC 21636-6 | This test identifies pathogenic variants in the EEF1A2 gene associated with autosomal dominant intellectual disability type 38. | Whole blood (EDTA tube), extracted DNA, or FTA card (dried blood spot) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| EFEMP1 Gene Doyne Honeycomb Retinal Dystrophy Genetic Test TEST-3624 LOINC 81273-5 | This genetic test evaluates the EFEMP1 gene for pathogenic variants associated with Doyne Honeycomb Retinal Dystrophy. | Peripheral whole blood (EDTA) or saliva | 3–4 Weeks | 2,800.00 AED | Details |
| EPG5 Gene Vici Syndrome Genetic Test TEST-2195 LOINC 94497-5 | This test analyzes the EPG5 gene for mutations associated with Vici syndrome. | Peripheral whole blood, extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| ERCC4 Gene XFE Progeroid Syndrome Genetic Test TEST-2182 LOINC 81319-2 | This test detects pathogenic mutations in the ERCC4 gene associated with XFE progeroid syndrome. | Peripheral whole blood, FTA card, or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| ERCC6 Gene Genetic Test for De Sanctis‑Cacchione Syndrome TEST-2888 LOINC 58135-0 | This diagnostic test evaluates the entire coding region of the ERCC6 gene for pathogenic variants associated with De Sanctis‑Cacchione syndrome. | Peripheral Whole Blood (EDTA tube) | 3 to 4 Weeks | 2,800.00 AED | Details |
| ERF Gene Craniosynostosis Type 4 Genetic Test TEST-2901 LOINC 81247-7 | This test identifies pathogenic variants in the ERF gene associated with autosomal dominant craniosynostosis type 4. | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| ESCO2 Gene Roberts Syndrome Genetic Test TEST-2379 LOINC 81315-5 | This genetic test analyzes the ESCO2 gene to identify mutations associated with Roberts syndrome. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| EXPH5 Gene Epidermolysis Bullosa, Nonspecific, Autosomal Recessive Genetic Test TEST-5140 LOINC 83537-7 | This genetic test evaluates the EXPH5 gene for variants associated with nonspecific autosomal recessive epidermolysis bullosa. | Whole blood (EDTA), extracted DNA, FTA card | 3–4 weeks (expedited options available) | 2,800.00 AED | Details |
| FAM126A Gene Sequencing for Hypomyelinating Leukodystrophy Type 5 Test TEST-4765 LOINC 21636-6 | This test identifies pathogenic variants in the FAM126A gene to confirm a diagnosis of hypomyelinating leukodystrophy type 5 (HLD5). | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| FAM58A Gene Genetic Test (Toe Syndactyly, Telecanthus, Anogenital & Renal Malformations) TEST-2245 LOINC 94303-5 | This test evaluates the FAM58A gene for pathogenic variants associated with STAR syndrome. | Whole Blood, Dried Blood Spot (FTA Card), or Extracted DNA | 21–28 days from sample receipt | 2,800.00 AED | Details |
| FANCF Gene Fanconi Anemia Type F Genetic Test TEST-6277 LOINC 94383-8 | This test identifies pathogenic variants in the FANCF gene, confirming a diagnosis of Fanconi Anemia Type F. | Whole Blood (EDTA), Extracted DNA (≥1 µg), or Dried Blood Spot (FTA Card) | 15 – 21 Business Days | 2,800.00 AED | Details |
| FBLN5 Gene Cutis Laxa Type 2, Autosomal Dominant Genetic Test TEST-5241 LOINC 81304-2 | This genetic test identifies pathogenic variants in the FBLN5 gene associated with autosomal dominant Cutis Laxa Type 2. | Whole blood, FTA card (dried blood spot), or extracted DNA | 14–21 business days | 2,800.00 AED | Details |
| FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13 Genetic Test TEST-5198 LOINC 85725-9 | This genetic test identifies pathogenic variants in the FBXL4 gene associated with mitochondrial DNA depletion syndrome type 13. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| FGD1 Gene Faciogenital Dysplasia Genetic Test TEST-2853 LOINC 83285-7 | This genetic test detects pathogenic variants in the FGD1 gene, the cause of Aarskog-Scott syndrome (faciogenital dysplasia). It provides a definitive... | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| FGD1 Gene X‑Linked Intellectual Disability Genetic Test TEST-5017 LOINC 72670-8 | This test evaluates the entire FGD1 gene for pathogenic variants associated with X-linked intellectual disability type 16 (MRX16). It uses Next-Genera... | Peripheral Whole Blood | 3–4 weeks | 2,800.00 AED | Details |
| FGFR1 Gene Sequencing for Pfeiffer Syndrome Test TEST-2435 LOINC 21684-6 | This test evaluates the FGFR1 gene for pathogenic variants associated with Pfeiffer syndrome. | Whole Blood or FTA Card (Dried Blood Spot) | 3–4 Weeks | 2,800.00 AED | Details |
| FGFR2 Gene Antley-Bixler Syndrome Genetic Test TEST-3107 LOINC 78990-8 | This test evaluates the FGFR2 gene for pathogenic variants associated with Antley-Bixler syndrome and related craniosynostosis disorders. | Whole Blood, Extracted DNA, Dried Blood Spot (FTA) | 3–4 weeks | 2,800.00 AED | Details |
| FGFR2 Gene Pfeiffer Syndrome Genetic Test TEST-2450 LOINC 83800-5 | This test comprehensively analyzes the FGFR2 gene for pathogenic variants associated with Pfeiffer syndrome. | Peripheral whole blood (3–5 mL EDTA) or FTA card spot | 3 – 4 weeks | 2,800.00 AED | Details |
| FH Gene Fumarase Deficiency Genetic Testing Test TEST-2824 LOINC 62324-8 | This diagnostic test evaluates the FH gene for pathogenic variants associated with fumarase deficiency and hereditary leiomyomatosis and renal cell ca... | Peripheral whole blood (EDTA), DNA FTA card, or extracted DNA (genomic) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| FLNB Gene Larsen Syndrome Genetic Test TEST-2653 LOINC 93341-5 | This diagnostic test evaluates the FLNB gene for pathogenic variants associated with specific skeletal dysplasias. | Peripheral Whole Blood or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| FOXC1 Gene Sequencing for Axenfeld-Rieger Syndrome Type 3 (NGS) Test TEST-3063 LOINC 21655-8 | This test evaluates the FOXC1 gene for pathogenic variants associated with Axenfeld-Rieger syndrome type 3. | Peripheral whole blood or extracted DNA (EDTA tube) | 3–4 weeks | 2,800.00 AED | Details |
| FOXF1 Gene NGS Test for Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins TEST-4467 LOINC 82939-0 | This test identifies pathogenic variants in the FOXF1 gene associated with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV).... | Whole blood, Extracted DNA, or FTA Card Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| FOXN1 Gene Analysis for T‑Cell Immunodeficiency, Alopecia, and Nail Dystrophy Test TEST-4522 LOINC 85399-6 | This test evaluates the FOXN1 gene for pathogenic variants linked to T-cell immunodeficiency, alopecia, and nail dystrophy. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| FTO Gene NGS Test for Growth Retardation, Developmental Delay, and Facial Dysmorphism TEST-2808 LOINC 65887-0 | This test identifies mutations in the FTO gene associated with a rare syndrome causing growth retardation, developmental delay, and facial dysmorphism... | Peripheral whole blood (EDTA) or Dried Blood Spot (FTA card) | 3 - 4 Weeks | 2,800.00 AED | Details |
| GATA3 Gene Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Genetic Test TEST-3752 LOINC 78804-5 | This genetic test identifies pathogenic variants in the GATA3 gene associated with HDR syndrome. | Whole Blood (EDTA tube) | 3 – 4 Weeks | 2,800.00 AED | Details |
| GATA4 Gene Atrioventricular Septal Defect Type 4 Next‑Generation Sequencing (NGS) Genetic Test TEST-4420 LOINC 88827-5 | This genetic test identifies mutations in the GATA4 gene associated with atrioventricular septal defect type 4. | Whole Blood or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| GDF1 Gene Genetic Test for Transposition of the Great Arteries (Dextro‑Looped Type 3) TEST-2236 LOINC 55233-1 | This test identifies mutations in the GDF1 gene associated with dextro-looped transposition of the great arteries (D‑TGA). It uses Next-Generation Seq... | Peripheral whole blood (2–3 mL EDTA), extracted DNA, or FTA card (dried blood spot) | 3–4 weeks (21–28 business days) | 2,800.00 AED | Details |
| GHR Gene Laron Syndrome Genetic Test TEST-3712 LOINC 94233-2 | This test identifies pathogenic variants in the GHR gene to diagnose Laron syndrome (growth hormone insensitivity). | Whole Blood or FTA Card (Peripheral Blood) | 3–4 Weeks | 2,800.00 AED | Details |
| GLI2 Gene Holoprosencephaly Type 9 Genetic Test TEST-2746 LOINC 82938-1 | This test detects pathogenic variants in the GLI2 gene associated with holoprosencephaly type 9. | Peripheral whole blood (venipuncture or heel-prick FTA card); or previously extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| GM2A Gene Tay-Sachs Disease AB Variant Genetic Test TEST-5790 LOINC 101346-7 | This diagnostic test evaluates the GM2A gene for pathogenic variants associated with Tay-Sachs disease AB variant (GM2 Activator Deficiency). It ident... | Whole Blood (EDTA), Extracted DNA, or FTA Card (Dried Blood Spot) | 3 to 4 Weeks | 2,800.00 AED | Details |
| GNAS Gene Pseudopseudohypoparathyroidism Genetic Test TEST-3544 LOINC 21663-4 | This diagnostic test evaluates the GNAS gene for mutations associated with pseudopseudohypoparathyroidism. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 Genetic Test TEST-5631 LOINC 55233-1 | This test identifies pathogenic variants in the GOSR2 gene associated with Progressive Myoclonus Epilepsy Type 6 (PME6). It uses Next-Generation Seque... | Peripheral Whole Blood (3–5 mL in EDTA tube) | 3 to 4 Weeks | 2,800.00 AED | Details |
| GPR101 Gene Test TEST-3938 LOINC 92735-7 | This genetic test evaluates the GPR101 gene for mutations associated with X-linked acrogigantism and early-onset acromegaly. | Whole Blood (EDTA), Extracted DNA (TE buffer), or One Drop Blood on FTA Card | 3-4 Weeks (expedited options available) | 2,800.00 AED | Details |
| GPSM2 Gene (Chudley-McCullough Syndrome) Genetic Test TEST-2960 LOINC 55233-1 | This test evaluates the GPSM2 gene for pathogenic variants associated with Chudley-McCullough syndrome. | Peripheral Whole Blood | 3 to 4 Weeks | 2,800.00 AED | Details |
| GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 Genetic Test TEST-4333 LOINC 21646-2 | This genetic test analyzes the GRIN2D gene to detect mutations associated with Early Infantile Epileptic Encephalopathy Type 46. | Peripheral whole blood, extracted DNA, or DNA FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| GTF2H5 Gene Trichothiodystrophy Genetic Test TEST-4497 LOINC 48808-6 | This test identifies pathogenic variants in the GTF2H5 gene, confirming a diagnosis of trichothiodystrophy. | Peripheral Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| GUCA1A Gene Cone-Rod Dystrophy Type 14 NGS Test TEST-3565 LOINC 100347-5 | This test identifies pathogenic variants in the GUCA1A gene associated with cone-rod dystrophy type 14. | Peripheral Whole Blood | 3–4 weeks | 2,800.00 AED | Details |
| GUCY2C Gene Sequencing for Meconium Ileus Genetic Test TEST-4804 LOINC 94219-4 | This test evaluates the GUCY2C gene for pathogenic variants associated with meconium ileus and familial diarrhea. | Whole Blood (EDTA Tube) or Dried Blood Spot (FTA Card) | 3 – 4 Weeks | 2,800.00 AED | Details |
| HADHA Gene Sequencing (Trifunctional Protein Deficiency) Test TEST-5779 LOINC 82267-7 | This genetic test evaluates the HADHA gene for pathogenic variants associated with mitochondrial trifunctional protein deficiency. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| HAX1 Gene (Severe Congenital Neutropenia Type 3) Genetic Test TEST-3200 LOINC 103000-6 | This genetic test evaluates the HAX1 gene for mutations associated with severe congenital neutropenia type 3 (Kostmann disease). It identifies pathoge... | Peripheral Blood (Home Collection via VIP Mobile Phlebotomy or FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| HEPACAM Gene MLC2A Genetic Test TEST-4865 LOINC 94834-7 | This diagnostic test evaluates the HEPACAM gene for pathogenic variants associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts Typ... | Whole Blood (4mL EDTA tube) or FTA Card (infants) | 3 to 4 Weeks (21–28 calendar days) | 2,800.00 AED | Details |
| HNF1B Gene Maturity-Onset Diabetes of the Young Type 5 Genetic Test TEST-6023 LOINC 82939-0 | This test detects pathogenic variants in the HNF1B gene to diagnose Maturity-Onset Diabetes of the Young type 5 (MODY 5). | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| HSPB8 Gene Neuronopathy (Distal Hereditary Motor Neuropathy Type 2A) Genetic Test TEST-5455 LOINC 82939-0 | This test identifies pathogenic variants in the HSPB8 gene associated with Distal Hereditary Motor Neuropathy Type 2A (dHMN2A). | Peripheral whole blood, extracted DNA, or dried blood spot | 3–4 weeks | 2,800.00 AED | Details |
| IARS2 Gene Genetic Test TEST-3015 LOINC 81265-5 | This test identifies pathogenic variants in the IARS2 gene associated with a rare multisystem syndrome. | Whole Blood (EDTA), Saliva, or FTA Card | 21–28 days | 2,800.00 AED | Details |
| IGF2 Gene Diabetes Genetic Test TEST-6336 LOINC 10193-4 | This test evaluates the IGF2 gene for pathogenic variants associated with an increased risk of developing diabetes. | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| IKBKG Gene Genetic Test TEST-4852 LOINC 85800-2 | This test identifies pathogenic variants in the IKBKG gene associated with primary immunodeficiency syndromes. | Peripheral Whole Blood (EDTA) or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| IL12RB2 Genetic Testing Test TEST-5338 LOINC 96603-4 | This test identifies mutations in the IL12RB2 gene, which are responsible for Mendelian Susceptibility to Mycobacterial Disease (MSMD). | Whole blood, extracted DNA, or one-drop FTA card | 3–4 weeks (expedited 10-day option available) | 2,800.00 AED | Details |
| IL1RAPL1 Gene Intellectual Disability, X‑linked Type 21 (MRX21) Genetic Test TEST-4914 LOINC 94222-8 | This test detects genetic variants in the IL1RAPL1 gene associated with X-linked intellectual disability type 21 (MRX21). | Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| IMPAD1 Gene NGS Test for Chondrodysplasia with Joint Dislocations (GPAPP Type) TEST-2969 LOINC 21636-6 | This test identifies pathogenic variants in the IMPAD1 gene associated with chondrodysplasia with joint dislocations (GPAPP type). | Peripheral Whole Blood or Extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| INPP5E Gene Joubert Syndrome Type 1 Genetic Test TEST-4647 LOINC 82939-0 | This test identifies pathogenic variants in the INPP5E gene associated with Joubert syndrome type 1. | Whole blood, extracted DNA, or one-drop blood on FTA card | 3–4 weeks | 2,800.00 AED | Details |
| IRF6 Gene Orofacial Cleft Type 6 Genetic Test TEST-2468 LOINC 81247-9 | This diagnostic test evaluates the IRF6 gene for pathogenic variants associated with orofacial cleft type 6 (Van der Woude syndrome). | Peripheral blood (whole blood), Extracted DNA, or One-drop Blood on FTA Card | 3 to 4 weeks | 2,800.00 AED | Details |
| KCNB1 Gene Early Infantile Epileptic Encephalopathy Type 26 Genetic Test TEST-4311 LOINC 82322-2 | This genetic test identifies pathogenic variants in the KCNB1 gene associated with Early Infantile Epileptic Encephalopathy Type 26. | Whole Blood (EDTA) – Peripheral Blood | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| KCTD17 Gene DYT26 Myoclonic Dystonia Genetic Test TEST-4208 LOINC 51958-3 | This genetic test identifies mutations in the KCTD17 gene associated with autosomal dominant myoclonic dystonia (DYT26). It sequences the entire codin... | Peripheral Whole Blood (3–5 mL in EDTA tube) or DNA FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| KIF1A‑Related Intellectual Disability (MRD9) Genetic Test TEST-4952 LOINC 82367-7 | This test identifies pathogenic variants in the KIF1A gene associated with intellectual disability and related neurological symptoms. | Peripheral Whole Blood (FTA Card or Venous Blood Draw) | 3–4 Weeks | 2,800.00 AED | Details |
| KIF1BP Gene GOSHS Genetic Test TEST-2818 LOINC 48018-6 | This test identifies pathogenic variants in the KIF1BP gene, confirming a diagnosis of Goldberg-Shprintzen megacolon syndrome (GOSHS). | Whole Blood (EDTA tube), FTA card dried blood spot, or extracted DNA | 3–4 Weeks (from sample receipt at laboratory) | 2,800.00 AED | Details |
| KIF1BP Gene Hirschsprung Disease Genetic Test TEST-2762 LOINC 81247-6 | This test analyzes the KIF1BP gene for pathogenic variants associated with Hirschsprung disease. | Whole Blood (EDTA, Lavender-Top Tube), Extracted DNA, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| KIF1C Gene Spastic Ataxia Type 2, Autosomal Recessive Genetic Test TEST-5612 LOINC 81247-9 | This test identifies pathogenic variants in the KIF1C gene associated with hereditary spastic ataxia type 2. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| KIF5C Gene Neurodevelopmental Malformation and Microcephaly Genetic Test TEST-5437 LOINC 101339-6 | This test evaluates the KIF5C gene for pathogenic variants associated with neurodevelopmental malformations and microcephaly. | Whole Blood (EDTA) or FTA card (3 mL) | 2–3 Weeks | 2,800.00 AED | Details |
| KMT2D Gene (Kabuki Syndrome Type 1) Genetic Test TEST-2698 LOINC 92875-3 | This test evaluates the KMT2D gene for pathogenic variants, including point mutations, deletions, and duplications, associated with Kabuki syndrome ty... | Whole blood (EDTA) or FTA card dried blood spot | 3 to 4 weeks | 2,800.00 AED | Details |
| KNL1 Gene MCPH4 Microcephaly Genetic Test TEST-2557 LOINC 92822-6 | This test evaluates the KNL1 gene for pathogenic variants associated with primary microcephaly type 4 (MCPH4). | Peripheral blood (3–5 mL in EDTA) or buccal swab / FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| KRT14 Gene Dermatopathia Pigmentosa Reticularis Genetic Test TEST-5249 LOINC 89989-4 | This genetic test evaluates the KRT14 gene for pathogenic variants associated with Dermatopathia pigmentosa reticularis. | Whole blood, extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| KRT14 Gene Epidermolysis Bullosa Simplex, Dowling-Meara Type DNA Test TEST-5125 LOINC 21663-4 | This test analyzes the KRT14 gene to detect pathogenic variants associated with Epidermolysis Bullosa Simplex, Dowling-Meara type. | Peripheral Whole Blood (or FTA card) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| KRT9 Gene Epidermolytic Palmoplantar Keratoderma Genetic Test TEST-5098 LOINC 83025-8 | This genetic test identifies pathogenic variants in the KRT9 gene associated with epidermolytic palmoplantar keratoderma (EPPK). | Whole Blood (3 mL) or FTA Card Dried Blood Spot | 3 – 4 Weeks | 2,800.00 AED | Details |
| L2HGDH Gene L-2-Hydroxyglutaric Aciduria Genetic Test TEST-6085 LOINC 94222-8 | This test evaluates the L2HGDH gene for mutations associated with L-2-hydroxyglutaric aciduria. | Whole Blood, FTA Card, Buccal Swab, or Extracted DNA | 3–4 Weeks (expedited available) | 2,800.00 AED | Details |
| LARS2 Gene Sequencing (Hydrops, Lactic Acidosis, and Sideroblastic Anemia) NGS Test TEST-6215 LOINC 83795-8 | This test identifies pathogenic variants in the LARS2 gene, which are associated with the rare syndromic triad of hydrops fetalis, lactic acidosis, an... | Whole blood (EDTA tube), extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| LAS1L Gene Wilson-Turner Syndrome Genetic Test TEST-3446 LOINC 93478-2 | This genetic test analyzes the LAS1L gene to detect pathogenic variants associated with Wilson-Turner syndrome. | Peripheral whole blood, extracted DNA, or dried blood spot on FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| LEFTY2 Gene Left-Right Axis Malformations Genetic Test TEST-2661 LOINC 21636-6 | This test identifies pathogenic variants in the LEFTY2 gene associated with left-right axis malformations. | Whole blood (EDTA), extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| LEMD3 Gene Buschke-Ollendorff Syndrome Genetic Test TEST-5349 LOINC 101368-6 | This test evaluates the LEMD3 gene for pathogenic variants associated with Buschke-Ollendorff syndrome. | Whole Blood or Buccal Swab | 3–4 weeks | 2,800.00 AED | Details |
| LIG4 Gene (LIG4 Syndrome) Genetic Test TEST-4841 LOINC 101370-8 | This genetic test identifies pathogenic variants in the LIG4 gene, which are responsible for LIG4 syndrome. | Peripheral whole blood (EDTA) | 21–28 calendar days | 2,800.00 AED | Details |
| LMNA Gene Dilated Cardiomyopathy with Hypergonadotropic Hypogonadism Genetic Testing Test TEST-4305 LOINC 82939-0 | This genetic test analyzes the LMNA gene for variants associated with dilated cardiomyopathy and hypergonadotropic hypogonadism. | Peripheral whole blood (or saliva as alternative) | 3–4 weeks | 2,800.00 AED | Details |
| LZTFL1 Gene Bardet‑Biedl Syndrome Genetic Test TEST-3936 LOINC 94305-9 | This genetic test analyzes the LZTFL1 gene for pathogenic variants associated with Bardet-Biedl syndrome. | Peripheral Whole Blood (EDTA) | 3 to 4 Weeks | 2,800.00 AED | Details |
| MAFB Gene Test TEST-4776 LOINC 81247-9 | This test identifies pathogenic variants in the MAFB gene, confirming a diagnosis of Multicentric Carpotarsal Osteolysis Syndrome (MCTO). | Peripheral whole blood or Dried Blood Spot (DBS) on FTA card | 3–4 weeks | 2,800.00 AED | Details |
| MAGT1 Gene Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia Genetic Test TEST-3685 LOINC 61330-7 | This genetic test analyzes the MAGT1 gene to identify mutations associated with X-linked immunodeficiency, magnesium defects, and susceptibility to Ep... | Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| MASTL Gene Thrombocytopenia Type 2 Genetic Test TEST-3149 LOINC 90556-0 | This genetic test identifies pathogenic variants in the MASTL gene associated with autosomal recessive thrombocytopenia type 2. | Whole blood (EDTA), extracted DNA, or FTA card | 21–28 Days | 2,800.00 AED | Details |
| MCPH1 Gene Microcephaly, Autosomal Recessive Type 1 Genetic Test TEST-2573 LOINC 21635-9 | This genetic test identifies pathogenic variants in the MCPH1 gene, the primary cause of autosomal recessive primary microcephaly type 1. | Whole Blood (3-5 mL EDTA) or Buccal Swab or FTA Card | 3-4 Weeks | 2,800.00 AED | Details |
| MCTP2 Gene Coarctation of the Aorta Genetic Test TEST-4017 LOINC 94301-0 | This test detects pathogenic variants in the MCTP2 gene, a primary cause of coarctation of the aorta. | Peripheral Whole Blood, Extracted DNA, FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| MED13L Gene Analysis (Mental Retardation, Facial Dysmorphism, Cardiac Defects) Test TEST-2598 LOINC 99566-9 | This test evaluates the MED13L gene for pathogenic variants associated with intellectual disability, facial dysmorphism, and cardiac defects. | Whole Blood (Peripheral Venipuncture) | 3–4 weeks | 2,800.00 AED | Details |
| MED13L Gene NGS Test (Transposition of the Great Arteries, Dextro‑looped Type 1) TEST-2223 LOINC 89848-3 | This test evaluates the MED13L gene for pathogenic variants associated with transposition of the great arteries (dextro-looped type 1). It identifies... | Peripheral whole blood (3 mL EDTA) or dried blood spot on FTA card | 3 – 4 weeks | 2,800.00 AED | Details |
| MEIS2 Gene Cleft Palate, Cardiac Defects, and Mental Retardation Genetic Test TEST-2966 LOINC 81264-1 | This test evaluates the entire MEIS2 gene for pathogenic variants associated with cleft palate, congenital heart defects, and intellectual disability. | Peripheral Blood, Extracted DNA, or FTA Card (Dried Blood Spot) | 3 to 4 Weeks | 2,800.00 AED | Details |
| MID2 Gene X‑Linked Intellectual Disability Type 101 Test TEST-4899 LOINC 51966-0 | This diagnostic test evaluates the MID2 gene for pathogenic variants associated with X-linked intellectual disability type 101. | Peripheral Whole Blood / FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| MMAA Gene Methylmalonic Aciduria, CblA Type Test TEST-5993 LOINC 81642-5 | This test identifies pathogenic variants in the MMAA gene associated with CblA-type methylmalonic aciduria. | Whole Blood (Peripheral), Extracted DNA, or FTA Card (Dried Blood Spot) | 21–28 calendar days (3–4 weeks) | 2,800.00 AED | Details |
| MMP2 Gene Multicentric Osteolysis, Nodulosis, and Arthropathy Genetic Test TEST-4789 LOINC 81247-9 | This genetic test evaluates the MMP2 gene for pathogenic variants associated with Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA) syndrome. | Peripheral blood, extracted DNA, or dried blood spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| MSH6 Gene Colorectal Cancer, Hereditary Nonpolyposis Type 5 Genetic Test TEST-2121 LOINC 38071-4 | This genetic test evaluates the MSH6 gene for mutations associated with an increased risk of Lynch syndrome and related cancers. | Peripheral whole blood (EDTA) or buccal swab | 3–4 weeks | 2,800.00 AED | Details |
| MSX1 Gene Orofacial Cleft Type 5 Genetic Test TEST-2485 LOINC 94709-5 | This genetic test evaluates the MSX1 gene for pathogenic variants associated with orofacial cleft type 5. | Whole Blood (2-3 mL EDTA) or DNA FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| MT-ATP8 Genetic Test for Infantile Hypertrophic Cardiomyopathy TEST-4234 LOINC 81304-3 | This test identifies pathogenic variants in the MT-ATP8 gene associated with infantile hypertrophic cardiomyopathy. | Peripheral Whole Blood or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| MYBPC1 Gene Sequencing for Distal Arthrogryposis Type 1B (NGS) Test TEST-5380 LOINC 51969-3 | This test identifies pathogenic variants in the MYBPC1 gene associated with distal arthrogryposis type 1B. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| MYH2 Gene Inclusion Body Myopathy Genetic Test TEST-4632 LOINC 81247-9 | This test evaluates the MYH2 gene for pathogenic variants associated with inclusion body myopathy. | Peripheral whole blood (EDTA tube), FTA card, or extracted DNA | 3 to 4 weeks | 2,800.00 AED | Details |
| NAA10 Gene (Ogden Syndrome) Genetic Test TEST-2478 LOINC 81247-9 | This test evaluates the NAA10 gene for pathogenic variants associated with Ogden syndrome. | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| NBN Gene (Nijmegen Breakage Syndrome) Genetic Test TEST-2503 LOINC 69079-5 | This test evaluates the NBN gene for pathogenic variants associated with Nijmegen breakage syndrome. | Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot | 14–21 Business Days | 2,800.00 AED | Details |
| NDUFA2 Gene Leigh Syndrome Genetic Test TEST-4712 LOINC 91247-9 | This test analyzes the NDUFA2 gene for pathogenic variants associated with Leigh syndrome, a mitochondrial neurodegenerative disorder. | Peripheral Whole Blood (EDTA tube, 3–5 mL) | 3–4 Weeks | 2,800.00 AED | Details |
| NDUFA9 Gene Leigh Syndrome Genetic Test TEST-4628 LOINC 91854-7 | This test evaluates the NDUFA9 gene for pathogenic variants associated with Leigh syndrome. | Whole Blood, Extracted DNA, FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| NEUROG3 Gene Genetic Test for Congenital Diarrhea Type 4 (Malabsorptive) TEST-6242 LOINC 53385-3 | This genetic test identifies pathogenic variants in the NEUROG3 gene associated with congenital malabsorptive diarrhea type 4. | Whole Blood, FTA Card, or Extracted DNA | 3 - 4 Weeks | 2,800.00 AED | Details |
| NFIX Gene Sequencing for Sotos-Like Syndrome DNA Test TEST-2291 LOINC 55233-1 | This test identifies mutations in the NFIX gene, which are associated with Sotos-like syndrome, a rare genetic overgrowth disorder. | Whole Blood, Extracted DNA, or One Drop Blood on FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| NHEJ1 Gene NGS Test for SCID, Microcephaly & Radiation Sensitivity TEST-4583 LOINC 21636-6 | This test identifies pathogenic variants in the NHEJ1 gene associated with severe combined immunodeficiency (SCID), microcephaly, growth retardation,... | Whole Blood or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| NIPBL Gene Cornelia de Lange Syndrome Type 1 Genetic Test TEST-5302 LOINC 92821-0 | This test identifies pathogenic variants in the NIPBL gene associated with Cornelia de Lange syndrome type 1. | Whole Blood, Extracted DNA, FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| NKX3-2 Gene Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Genetic Test TEST-2270 LOINC 93268-5 | This genetic test analyzes the NKX3-2 gene to detect mutations associated with Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD). | Whole blood, extracted DNA, or FTA card drop | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| NODAL Gene Heterotaxy Visceral Type 5 Genetic Test TEST-2778 LOINC 82543-0 | This test evaluates the NODAL gene for mutations associated with visceral heterotaxy type 5, a condition affecting organ positioning. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| NRXN1 Gene Sequencing for Pitt-Hopkins Syndrome (Genetic Test) TEST-2446 LOINC 21797-6 | This genetic test analyzes the NRXN1 gene to detect pathogenic variants associated with Pitt-Hopkins syndrome. | Peripheral Whole Blood | 3 to 4 Weeks | 2,800.00 AED | Details |
| NTRK1 Gene HSAN4 Genetic Test TEST-4507 LOINC 21647-5 | This test evaluates the entire coding region and conserved splice sites of the NTRK1 gene to identify pathogenic variants associated with Hereditary S... | Peripheral whole blood (3–5 mL in EDTA lavender-top tube) | 3–4 weeks (21–28 calendar days) | 2,800.00 AED | Details |
| OCRL Gene Test TEST-3700 LOINC 81333-2 | This test evaluates the OCRL gene for pathogenic variants associated with Lowe syndrome (Oculocerebrorenal Syndrome). It identifies mutations responsi... | Peripheral Whole Blood | 3 to 4 Weeks | 2,800.00 AED | Details |
| OFD1 Gene Oral-Facial-Digital Syndrome Type 1 Genetic Test TEST-5401 LOINC 82939-0 | This test sequences the entire coding region of the OFD1 gene to identify pathogenic variants responsible for Oral-Facial-Digital Syndrome Type 1. | Whole Blood / Extracted DNA / FTA Card (Dried Blood Spot) | 3–4 Weeks | 2,800.00 AED | Details |
| P4HB Gene Cole-Carpenter Syndrome Type 1 Genetic Test TEST-5276 LOINC 92860-7 | This genetic test identifies pathogenic variants in the P4HB gene associated with Cole-Carpenter syndrome type 1. | Whole Blood, Extracted DNA, or FTA Card Specimen | 3–4 Weeks | 2,800.00 AED | Details |
| PAX2 Gene Papillorenal Syndrome Genetic Test TEST-2462 LOINC 85705-0 | This genetic test identifies pathogenic variants in the PAX2 gene, which are associated with Papillorenal Syndrome. | Peripheral whole blood (EDTA), buccal swab, or FTA card | 3 to 4 Weeks | 2,800.00 AED | Details |
| PAX9 Genetic Test for Tooth Agenesis (Oligodontia) TEST-2240 LOINC 94222-1 | This test identifies pathogenic variants in the PAX9 gene associated with selective tooth agenesis type 3 (STHAG3). It utilizes next-generation sequen... | Whole Blood (EDTA) or FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| PC Gene Leigh Syndrome Genetic Test (Pyruvate Carboxylase Deficiency) TEST-4663 LOINC 93683-6 | This test identifies pathogenic variants in the PC gene associated with pyruvate carboxylase deficiency, a cause of Leigh syndrome. | Whole blood (EDTA), DNA FTA card, or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| PDE4D Gene Acrodysostosis Type 2 (ACRDYS2) Genetic Test TEST-5443 LOINC 87833-5 | This test identifies pathogenic variants in the PDE4D gene associated with Acrodysostosis Type 2. | Whole Blood, Extracted DNA, FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| PDGFRB Gene Basal Ganglia Calcification Type 4 Genetic Test TEST-3045 LOINC 95286-5 | This genetic test identifies pathogenic variants in the PDGFRB gene associated with idiopathic basal ganglia calcification type 4 (IBGC4). | Whole Blood (EDTA) or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| PECAM1 Gene Immunological Disorder Genetic Test TEST-4882 LOINC 48004-7 | This test evaluates the PECAM1 gene for pathogenic variants associated with immunological, dermatological, and osteological disorders. | Peripheral whole blood | 3 to 4 Weeks | 2,800.00 AED | Details |
| PET100 Gene Mitochondrial Complex IV Deficiency Genetic Test TEST-5174 LOINC 21635-9 | This test identifies pathogenic variants in the PET100 gene, which are associated with mitochondrial complex IV deficiency. | Peripheral Whole Blood (EDTA), Buccal Swab, or FTA Card | 3–4 Weeks (21–28 Calendar Days) | 2,800.00 AED | Details |
| PEX12 Gene Zellweger Syndrome Genetic Test TEST-5969 LOINC 98228-7 | This test analyzes the PEX12 gene for pathogenic variants associated with Zellweger syndrome. | Whole blood (EDTA) or dried blood spot | 3 to 4 weeks | 2,800.00 AED | Details |
| PGAP1 Gene Autosomal Recessive Intellectual Disability Type 42 (MRT42) Genetic Test TEST-4877 LOINC 81247-7 | This test detects pathogenic variants in the PGAP1 gene associated with autosomal recessive intellectual disability type 42 (MRT42). | Peripheral Whole Blood | 3-4 Weeks | 2,800.00 AED | Details |
| PGAP2 Gene NGS Test for HPMRS3 TEST-2723 LOINC 82125-8 | This diagnostic test evaluates the PGAP2 gene for pathogenic variants associated with Hyperphosphatasia with Mental Retardation Syndrome Type 3 (HPMRS... | Whole blood (EDTA) or Dried Blood Spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| PHF8 Gene Sequencing (Siderius Syndrome) Test TEST-4972 LOINC 81661-6 | This test analyzes the PHF8 gene to identify variants associated with X-linked intellectual disability Siderius type. | Whole Blood (Peripheral Venous) | 3–4 Weeks | 2,800.00 AED | Details |
| PHKA2 Gene (Glycogen Storage Disease Type IXa) Genetic Test TEST-6330 LOINC 74046-9 | This genetic test identifies pathogenic variants in the PHKA2 gene associated with Glycogen Storage Disease Type IXa. | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| PHOX2A Gene Congenital Fibrosis of Extraocular Muscles Type 2 Genetic Test TEST-5102 LOINC 21600-1 | This test identifies pathogenic variants within the PHOX2A gene associated with Congenital Fibrosis of Extraocular Muscles Type 2 (CFEOM2). It is perf... | Whole blood (EDTA), extracted DNA, or FTA card blood spot | 3–4 Weeks (21–28 business days) | 2,800.00 AED | Details |
| PIEZO2 Gene Distal Arthrogryposis Type 5 (DA5) Genetic Test TEST-5369 LOINC 78843-0 | This genetic test identifies pathogenic mutations in the PIEZO2 gene associated with Distal Arthrogryposis Type 5 (DA5). It uses next-generation seque... | Whole Blood (EDTA or lithium heparin), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| PITX1 Gene Clubfoot Genetic Test TEST-2956 LOINC 92917-4 | This test identifies genetic variants in the PITX1 gene associated with clubfoot. | Blood (EDTA), DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| PKP1 Gene Ectodermal Dysplasia-Skin Fragility Syndrome Genetic Test TEST-5214 LOINC 76978-4 | This genetic test identifies pathogenic variants in the PKP1 gene associated with ectodermal dysplasia-skin fragility syndrome. | Peripheral whole blood (EDTA) or buccal swab | 3–4 weeks | 2,800.00 AED | Details |
| PLEKHG5 Gene Distal Spinal Muscular Atrophy Type 4 (DSMA4) Genetic Test TEST-5720 LOINC 21665-1 | This genetic test identifies pathogenic mutations in the PLEKHG5 gene associated with distal spinal muscular atrophy type 4 (DSMA4). | Whole Blood (EDTA tube), Extracted DNA, or FTA Card Spot | 3 – 4 weeks (21 – 28 calendar days) | 2,800.00 AED | Details |
| PNKP Gene Ataxia-Oculomotor Apraxia Type 4 Genetic Test TEST-3838 LOINC 81405-9 | This genetic test identifies pathogenic variants in the PNKP gene associated with Ataxia-Oculomotor Apraxia Type 4 (AOA4). It analyzes the entire codi... | Venous Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| POMT1 Gene Muscular Dystrophy-Dystroglycanopathy (Congenital with Intellectual Disability), Type B1 Test TEST-5180 LOINC 94225-7 | This test identifies pathogenic variants in the POMT1 gene associated with congenital muscular dystrophy-dystroglycanopathy type B1. | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| PPARG Gene Test TEST-3574 LOINC 59079-3 | This test evaluates the PPARG gene for pathogenic variants associated with severe monogenic obesity. | Whole Blood or FTA Card Specimen | 3 to 4 Weeks | 2,800.00 AED | Details |
| PRDM12 Gene HSAN8 Genetic Test TEST-4513 LOINC 94209-3 | This test analyzes the PRDM12 gene to detect mutations associated with Hereditary Sensory and Autonomic Neuropathy Type 8 (HSAN8). It identifies disea... | Whole blood (EDTA), extracted DNA, or dried blood spot (FTA card) | 3 to 4 weeks | 2,800.00 AED | Details |
| PRF1 Gene Aplastic Anemia Genetic Test TEST-6099 LOINC 81247-4 | This diagnostic test evaluates the PRF1 gene for pathogenic variants associated with inherited bone marrow failure syndromes, including aplastic anemi... | Whole Blood (EDTA, 3–5 mL), Extracted DNA (≥ 1 µg at ≥ 50 ng/µL), or Dried Blood Spot on FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| PRKAR1A Gene Sequencing for Acrodysostosis Type 1 (With/Without Hormone Resistance) Test TEST-3100 LOINC 93931-6 | This test identifies pathogenic variants in the PRKAR1A gene, confirming a diagnosis of acrodysostosis type 1 and associated hormone resistance. | Peripheral Whole Blood (EDTA) or FTA Card Capillary Sample | 21–28 Days | 2,800.00 AED | Details |
| PRKD1 Gene Analysis (Congenital Heart Defects & Ectodermal Dysplasia) Test TEST-2949 LOINC 81313-2 | This test evaluates the PRKD1 gene for pathogenic variants associated with congenital heart defects and ectodermal dysplasia. | Whole Blood, FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| PRSS12 Gene Sequencing for Autosomal Recessive Intellectual Disability Type 1 (Genetic Test) TEST-4850 LOINC 94553-2 | This test analyzes the PRSS12 gene to detect pathogenic variants associated with autosomal recessive intellectual disability type 1 (MRT1). It uses Ne... | Peripheral Whole Blood or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| PTDSS1 Gene Lenz-Majewski Hyperostotic Dwarfism Genetic Test TEST-2659 LOINC 101842-9 | This test identifies pathogenic variants in the PTDSS1 gene to diagnose Lenz-Majewski hyperostotic dwarfism. | Peripheral whole blood (2–3 ml in EDTA) or dried blood spot on FTA card | 3 – 4 Weeks | 2,800.00 AED | Details |
| PTF1A Gene Sequencing for Pancreatic and Cerebellar Agenesis Test TEST-5958 LOINC 94230-1 | This test identifies pathogenic variants in the PTF1A gene associated with pancreatic and cerebellar agenesis. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (DBS) | 21–28 Days (3–4 Weeks) | 2,800.00 AED | Details |
| PTH Gene Hypoparathyroidism Genetic Test TEST-3756 LOINC 94474-6 | This test evaluates the entire coding region of the PTH gene for pathogenic variants associated with hypoparathyroidism. | Whole Blood (Peripheral Venous) | 3–4 Weeks | 2,800.00 AED | Details |
| RARS2 Gene Pontocerebellar Hypoplasia Type 6 Genetic Test TEST-5598 LOINC 66837-0 | This genetic test identifies pathogenic variants in the RARS2 gene associated with pontocerebellar hypoplasia type 6. | Whole blood (EDTA) or buccal swab | 3–4 weeks | 2,800.00 AED | Details |
| RBBP8 Gene Seckel Syndrome Type 2 Genetic Test TEST-2344 LOINC 86483-7 | This test detects pathogenic variants in the RBBP8 gene associated with Seckel syndrome type 2. | Whole Blood, FTA Card, Isolated DNA | 3–4 Weeks | 2,800.00 AED | Details |
| RBM10 Gene TARP Syndrome Genetic Test TEST-2250 LOINC 81247-9 | This test evaluates the RBM10 gene for pathogenic variants associated with TARP syndrome. | Whole Blood (EDTA) – Peripheral Venous Blood | 3–4 Weeks | 2,800.00 AED | Details |
| RDH11 Gene Genetic Test TEST-2392 LOINC 48000-4 | This test evaluates the RDH11 gene for pathogenic variants associated with inherited retinal dystrophy, juvenile cataracts, and syndromic short statur... | Peripheral Whole Blood | 3–4 weeks | 2,800.00 AED | Details |
| RET Gene (Exons 5, 8, 10, 11, 13–16) Selective Sequencing (NGS) Test TEST-1903 LOINC 92815-9 | This test evaluates specific exons of the RET gene for germline mutations associated with hereditary medullary thyroid carcinoma and MEN2 syndromes. | Peripheral whole blood (3–5 mL in EDTA tube) or dried blood spot on FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| RETREG1 Gene HSAN2B Genetic Test TEST-4502 LOINC 82159-7 | This test evaluates the RETREG1 gene for pathogenic variants associated with Hereditary Sensory and Autonomic Neuropathy Type 2B (HSAN2B). It identifi... | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| RFXANK Gene Bare Lymphocyte Syndrome Type 2 Genetic Test TEST-5319 LOINC 21636-7 | This test identifies pathogenic variants within the RFXANK gene associated with Bare Lymphocyte Syndrome Type 2 (BLS2). | Peripheral whole blood (EDTA), dried blood spot (FTA card), or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| RIMS1 Gene Cone-Rod Dystrophy Type 7 Genetic Test TEST-3582 LOINC 55233-1 | This test identifies pathogenic mutations within the RIMS1 gene associated with cone-rod dystrophy type 7. | Whole blood (3–5 mL in EDTA tube), extracted DNA, or dried blood spot on FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| RNASEH2A Gene Sequencing for Aicardi-Goutières Syndrome Type 4 Test TEST-3725 LOINC 81260-3 | This test identifies pathogenic variants in the RNASEH2A gene to confirm a diagnosis of Aicardi-Goutières Syndrome Type 4. | Peripheral Whole Blood | 3 – 4 Weeks | 2,800.00 AED | Details |
| ROGDI Gene Kohlschütter-Tönz Syndrome Genetic Test TEST-4701 LOINC 101399-7 | This genetic test detects pathogenic variants in the ROGDI gene, confirming a diagnosis of Kohlschütter-Tönz Syndrome. | Whole Blood (EDTA), Extracted DNA (≥2 µg, A260/A280: 1.8–2.0), Dried Blood Spot on FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| RPL5 Gene Diamond-Blackfan Anemia Type 6 Genetic Test TEST-3278 LOINC 81247-9 | This test identifies pathogenic variants in the RPL5 gene associated with Diamond-Blackfan Anemia Type 6. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| RPS6KA3 Gene Coffin‑Lowry Syndrome Genetic Test TEST-4086 LOINC 97920-5 | This test analyzes the RPS6KA3 gene for variants associated with Coffin‑Lowry syndrome (CLS), an X-linked dominant disorder. | Peripheral whole blood (3–5 mL) in an EDTA tube, extracted DNA, or dried blood spot on an FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| RYR1 Gene Analysis (Minicore Myopathy with External Ophthalmoplegia) Test TEST-5103 LOINC 76720-0 | This test evaluates the RYR1 gene for pathogenic variants associated with minicore myopathy with external ophthalmoplegia. | Whole Blood, Extracted DNA, or FTA Card Sample | 3–4 Weeks | 2,800.00 AED | Details |
| SCO2 Gene Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency Genetic Test TEST-4391 LOINC 100034-8 | This genetic test identifies pathogenic variants in the SCO2 gene associated with fatal infantile cardioencephalomyopathy due to cytochrome c oxidase... | Peripheral Whole Blood (3 mL EDTA), FTA Card Spot, or Extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| SF3B4 Gene Acrofacial Dysostosis 1, Nager Type Genetic Test (NGS) TEST-5491 LOINC 21636-6 | This test identifies pathogenic variants in the SF3B4 gene associated with Acrofacial Dysostosis 1 (Nager syndrome). It provides a definitive molecula... | Peripheral Blood or Saliva | 3 – 4 Weeks | 2,800.00 AED | Details |
| SFTPA2 Gene Idiopathic Pulmonary Fibrosis Genetic Test TEST-5476 LOINC 91854-8 | This test evaluates for pathogenic mutations in the SFTPA2 gene, which are associated with an increased risk of developing idiopathic pulmonary fibros... | Whole Blood, Extracted DNA, or FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| SHH Gene Holoprosencephaly Type 3 Genetic Test TEST-2748 LOINC 94531-1 | This diagnostic test evaluates the SHH gene for pathogenic variants associated with Holoprosencephaly type 3. | Whole Blood (EDTA) or Dried Blood Spot (FTA card) | 3 – 4 Weeks | 2,800.00 AED | Details |
| SHOC2 Gene (Noonan Syndrome-like) Genetic Test TEST-2513 LOINC 94197-2 | This test evaluates the SHOC2 gene for pathogenic variants associated with Noonan syndrome-like disorder with loose anagen hair and related RASopathie... | Whole Blood (Peripheral, EDTA) or Buccal Swab / FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| SHOX Gene Short Stature Syndrome Genetic Test TEST-2324 LOINC 81345-3 | This test evaluates the entire coding region of the SHOX gene for mutations associated with short stature syndromes. | EDTA Whole Blood, Extracted DNA, or FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| SHROOM4 Gene Genetic Test for Stocco Dos Santos X‑Linked Intellectual Disability Syndrome TEST-5910 LOINC 94862-5 | This test identifies pathogenic variants in the SHROOM4 gene associated with Stocco Dos Santos X‑linked intellectual disability syndrome. | Whole blood (EDTA), FTA card, or extracted genomic DNA | 3–4 Weeks | 2,800.00 AED | Details |
| SIK1 Gene Sequencing for Early Infantile Epileptic Encephalopathy Type 30 (NGS) Test TEST-4267 LOINC 81378-7 | This test identifies pathogenic variants within the SIK1 gene associated with early infantile epileptic encephalopathy type 30 (EIEE30). | Whole blood, extracted DNA, or dried blood spot (FTA card) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| SIL1 Gene Cataract, Congenital, Associated with Marinesco-Sjögren Syndrome Genetic Test TEST-3526 LOINC 82185-1 | This test identifies pathogenic variants in the SIL1 gene, which are causative for Marinesco-Sjögren syndrome and associated congenital cataracts. | Peripheral whole blood, FTA card, or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| SLC25A19 Gene Sequencing (Amish Microcephaly Type) Test TEST-2575 LOINC 58217-2 | This test evaluates the SLC25A19 gene for pathogenic variants associated with Amish microcephaly. | Peripheral Whole Blood or FTA Dried Blood Spot Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| SLC25A4 Gene: Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2, Autosomal Dominant Test TEST-5532 LOINC 82939-2 | This genetic test analyzes the SLC25A4 gene to detect mutations associated with autosomal dominant progressive external ophthalmoplegia with mitochond... | Whole Blood (EDTA) or FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| SLC26A1 Gene Genetic Test TEST-3539 LOINC 82305-9 | This test identifies pathogenic variants in the SLC26A1 gene, which are associated with an increased risk of developing calcium oxalate kidney stones... | Whole Blood (EDTA) or Buccal DNA Swab | 3–4 weeks | 2,800.00 AED | Details |
| SLC30A10 Gene Analysis (Hypermanganesemia with Dystonia, Polycythemia & Cirrhosis) Test TEST-6167 LOINC 82940-5 | This test identifies genetic mutations in the SLC30A10 gene associated with hypermanganesemia, dystonia, polycythemia, and cirrhosis. | Whole blood (EDTA), extracted DNA, or FTA card | 3 – 4 weeks | 2,800.00 AED | Details |
| SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria Genetic Test TEST-5031 LOINC 82939-0 | This genetic test analyzes the SLC34A3 gene to diagnose hereditary hypophosphatemic rickets with hypercalciuria (HHRH). | Whole Blood (EDTA), Extracted DNA (>500 ng), or FTA Card Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| SLC45A2 Gene Sequencing for Oculocutaneous Albinism Type 4 (OCA4) Test TEST-3494 LOINC 94231-1 | This test detects pathogenic variants in the SLC45A2 gene associated with Oculocutaneous Albinism Type 4 (OCA4). | Peripheral Whole Blood (EDTA Tube) | 3–4 Weeks | 2,800.00 AED | Details |
| SLC52A3 Gene (Fazio-Londe Disease) Genetic Test TEST-5620 LOINC 94122-6 | This test evaluates the SLC52A3 gene for pathogenic variants associated with Fazio-Londe disease, a rare genetic disorder affecting riboflavin transpo... | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| SMARCA2 Gene Nicolaides-Baraitser Syndrome Genetic Test TEST-2517 LOINC 21636-6 | This test identifies pathogenic variants in the SMARCA2 gene associated with Nicolaides-Baraitser syndrome. | Peripheral Whole Blood (EDTA) or Extracted Genomic DNA | 3–4 Weeks | 2,800.00 AED | Details |
| SMPX Gene (Deafness, X-Linked Type 4) Genetic Test TEST-5569 LOINC 21636-6 | This test detects pathogenic variants in the SMPX gene associated with X-linked type 4 non-syndromic hearing loss. | Whole blood, Extracted DNA, or FTA Card | 21–28 working days | 2,800.00 AED | Details |
| SNAP29 Gene CEDNIK Syndrome Genetic Test TEST-2982 LOINC 91719-8 | This test evaluates the SNAP29 gene for pathogenic variants associated with CEDNIK syndrome. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| SOST Gene Craniodiaphyseal Dysplasia Genetic Test TEST-2930 LOINC 60512-8 | This test detects pathogenic variants in the SOST gene associated with autosomal dominant craniodiaphyseal dysplasia. | Peripheral whole blood (3-5 mL EDTA) or FTA dried blood spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| SOST Gene Van Buchem Disease Genetic Test TEST-4484 LOINC 83443-3 | This test evaluates the SOST gene for pathogenic variants associated with Van Buchem disease (sclerosteosis). It identifies single-nucleotide variants... | Peripheral Whole Blood (EDTA) or FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| SPATA5 Gene Epilepsy, Hearing Loss, and Mental Retardation Syndrome Genetic Test TEST-4356 LOINC 81247-9 | This genetic test evaluates the SPATA5 gene for mutations associated with epilepsy, hearing loss, and intellectual disability. | Peripheral whole blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card) | 3 – 4 Weeks | 2,800.00 AED | Details |
| SPEG Gene Centronuclear Myopathy Type 5 Genetic Test TEST-4006 LOINC 81260-0 | This test evaluates the SPEG gene for pathogenic variants associated with centronuclear myopathy type 5. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| SPG11 Gene Sequencing (NGS) Test TEST-5625 LOINC 40825-5 | This test analyzes the SPG11 gene for mutations associated with Hereditary Spastic Paraplegia Type 11 (HSP-11). | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | 10–14 business days | 2,800.00 AED | Details |
| SPINT2 Gene Sequencing Test TEST-6339 LOINC 81308-0 | This test evaluates the SPINT2 gene for pathogenic variants associated with congenital sodium diarrhea, syndromic type 3. | Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| SPRED1 Gene Legius Syndrome Genetic Test TEST-4844 LOINC 82939-0 | This test evaluates the SPRED1 gene for pathogenic variants associated with Legius syndrome. | Whole Blood (Peripheral) | 3 to 4 Weeks | 2,800.00 AED | Details |
| STIM1 Gene (Stormorken Syndrome) Genetic Test TEST-3189 LOINC 61693-7 | This test evaluates the STIM1 gene for pathogenic variants associated with Stormorken syndrome, an autosomal dominant disorder. | Peripheral whole blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| SYNE1 Gene Sequencing Test TEST-4357 LOINC 21636-6 | This test identifies pathogenic variants in the SYNE1 gene, confirming a diagnosis of Emery-Dreifuss Muscular Dystrophy Type 4 (EDMD4). | Peripheral whole blood (EDTA tube) | 3–4 weeks including pre-test genetic counselling session | 2,800.00 AED | Details |
| TAZ Gene Barth Syndrome Genetic Test TEST-4416 LOINC 83276-0 | This test evaluates the entire coding region and flanking intronic sequences of the TAZ gene using Next-Generation Sequencing (NGS). It detects pathog... | Peripheral whole blood (EDTA) or dried blood spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| TBC1D24 Gene DOOR Syndrome Genetic Test TEST-2869 LOINC 21636-6 | This test identifies pathogenic variants in the TBC1D24 gene associated with DOOR syndrome. | Peripheral Whole Blood, Dried Blood Spot (FTA Card), or Pre-extracted DNA | 3 – 4 Weeks | 2,800.00 AED | Details |
| TBX15 Gene Cousin Syndrome Genetic Test TEST-2939 LOINC 55221-3 | This genetic test detects pathogenic and likely pathogenic variants in the T-box 15 gene associated with Cousin syndrome. | Peripheral Whole Blood / DNA (FTA Card acceptable) | 3 to 4 weeks | 2,800.00 AED | Details |
| TBX6 Gene Spondylocostal Dysostosis Type 5 Genetic Test TEST-2279 LOINC 81205-9 | This test identifies pathogenic variants or copy number variations in the TBX6 gene associated with Spondylocostal Dysostosis Type 5. | Whole blood (3–5 mL in EDTA), extracted DNA (1–2 µg), or FTA card blood spot | 3–4 Weeks | 2,800.00 AED | Details |
| TCIRG1 Gene Osteopetrosis Autosomal Recessive Type 1 Genetic Test TEST-4698 LOINC 88857-4 | This diagnostic test evaluates the TCIRG1 gene for pathogenic variants associated with autosomal recessive osteopetrosis type 1. | Peripheral whole blood (EDTA tube) | 3 – 4 weeks | 2,800.00 AED | Details |
| TCOF1 Gene (Treacher Collins Syndrome Type 1) Genetic Test TEST-2232 LOINC 21647-4 | This genetic test evaluates the TCOF1 gene for pathogenic variants associated with Treacher Collins syndrome type 1. | Peripheral blood or FTA card | 3 to 4 Weeks | 2,800.00 AED | Details |
| TCTN3 Gene Sequencing for Orofaciodigital Syndrome Type 4 Test TEST-2477 LOINC 21636-6 | This test detects pathogenic variants in the TCTN3 gene associated with Orofaciodigital Syndrome Type 4. | Whole Blood or Buccal Swab | 3 to 4 weeks | 2,800.00 AED | Details |
| TFAP2A Gene Branchiooculofacial Syndrome Genetic Test TEST-3035 LOINC 21624-1 | This test identifies mutations in the TFAP2A gene associated with Branchiooculofacial syndrome. | Whole blood (EDTA tube), buccal swab, extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| TFG Gene (SPG57) Genetic Test TEST-5686 LOINC 91518-1 | This test detects pathogenic variants in the TFG gene associated with autosomal recessive hereditary spastic paraplegia type 57 (SPG57). | Peripheral Blood or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| TGFBR1 Gene Loeys-Dietz Syndrome Type 2A Genetic Test (NGS) TEST-4834 LOINC 82994-1 | This molecular diagnostic test identifies pathogenic variants in the TGFBR1 gene, which are causative for Loeys-Dietz syndrome type 2A. | Peripheral whole blood (3–5 mL in EDTA tube) or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| TIMM21 Gene Mitochondrial Respiratory Chain Disease, TIMM21-Related Genetic Test TEST-5221 LOINC 104204-1 | This test identifies pathogenic variants within the TIMM21 gene associated with mitochondrial respiratory chain disorders. | Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| TJP2 Gene Hypercholanemia Genetic Test TEST-6205 LOINC 81247-9 | This genetic test identifies pathogenic variants in the TJP2 gene associated with progressive familial intrahepatic cholestasis type 4 (PFIC4). It hel... | Peripheral whole blood (EDTA) or buccal swab | 3–4 weeks | 2,800.00 AED | Details |
| TMCO1 Gene Craniofacial Dysmorphism, Skeletal Anomalies & Mental Retardation Syndrome NGS Test TEST-4112 LOINC 102502-1 | This diagnostic test evaluates the TMCO1 gene for pathogenic variants linked to craniofacial dysmorphism, skeletal anomalies, and mental retardation s... | Whole Blood (EDTA), FTA Card Blood Spot, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| TMEM231 Gene Joubert Syndrome Type 20 Genetic Test TEST-4584 LOINC 101356-6 | This genetic test identifies pathogenic variants in the TMEM231 gene associated with Joubert syndrome type 20. | Whole blood (3 mL) or saliva | 3–4 Weeks (express reporting available) | 2,800.00 AED | Details |
| TNFRSF11B Gene (Paget Disease, Juvenile) Genetic Test TEST-4653 LOINC 81247-9 | This test evaluates the TNFRSF11B gene for mutations associated with juvenile Paget disease (hereditary hyperphosphatasia). | Peripheral whole blood, FTA card blood spot | 3–4 weeks | 2,800.00 AED | Details |
| TSEN54 Gene Pontocerebellar Hypoplasia Type 2A Genetic Test TEST-5496 LOINC 76006-3 | This diagnostic test evaluates the TSEN54 gene for pathogenic variants associated with Pontocerebellar Hypoplasia Type 2A. | Whole Blood (3-5 mL EDTA) or Saliva (Oragene DNA Kit) | 14–21 calendar days | 2,800.00 AED | Details |
| TTC21B Genetic Test (Short-Rib Thoracic Dysplasia Type 4) TEST-2305 LOINC 55233-1 | This test identifies pathogenic mutations in the TTC21B gene associated with short-rib thoracic dysplasia type 4. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| TUBB2B Gene Polymicrogyria Asymmetric Genetic Test TEST-2437 LOINC 21636-6 | This test detects pathogenic variants in the TUBB2B gene associated with asymmetric polymicrogyria. | Whole blood, extracted DNA, or dried blood spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| TUBB3 Gene Sequencing for CFEOM3A Test TEST-3626 LOINC 59110-7 | This test detects pathogenic variants in the TUBB3 gene, which are associated with congenital fibrosis of extraocular muscles type 3A (CFEOM3A). | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| TUBB4A Gene Leukodystrophy Hypomyelinating Type 6 Genetic Test TEST-4682 LOINC 21665-1 | This test identifies disease-causing mutations in the TUBB4A gene to confirm a molecular diagnosis of hypomyelinating leukodystrophy type 6. | Peripheral Whole Blood (3–5 mL in EDTA) or Buccal Swab | 3–4 Weeks (expedited 10-day option available) | 2,800.00 AED | Details |
| TUBG1 Gene Neurodevelopmental Malformation and Microcephaly Genetic Test TEST-5342 LOINC 101389-3 | This test identifies pathogenic variants in the TUBG1 gene, which are associated with autosomal dominant microcephaly and cortical brain malformations... | Peripheral Whole Blood (Venipuncture) or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| TYMP Gene MNGIE Syndrome (Without Leukoencephalopathy) Genetic Test TEST-5218 LOINC 81305-3 | This genetic test identifies mutations in the TYMP gene associated with MNGIE syndrome without leukoencephalopathy. | Whole Blood (EDTA tube), Extracted DNA, or Dried Blood Spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| TYRP1 Oculocutaneous Albinism Type 3 (OCA3) Genetic Test TEST-3473 LOINC 21636-6 | This genetic test evaluates the TYRP1 gene for pathogenic variants associated with oculocutaneous albinism type 3 (OCA3). It helps confirm the diagnos... | Peripheral whole blood | 3 – 4 weeks | 2,800.00 AED | Details |
| UMOD Gene Hyperuricemic Nephropathy, Familial Juvenile Type 1 Genetic Test TEST-3780 LOINC 94487-1 | This genetic test analyzes the UMOD gene for mutations associated with familial juvenile hyperuricemic nephropathy type 1. | Peripheral whole blood (EDTA), 2–5 mL; also accepted: extracted genomic DNA, FTA card spots | 21–28 calendar days | 2,800.00 AED | Details |
| UPB1 Gene Beta-Ureidopropionase Deficiency Genetic Test TEST-3062 LOINC 21636-6 | This genetic test evaluates the UPB1 gene for mutations associated with beta-ureidopropionase deficiency. | Peripheral Blood, Extracted DNA, or FTA Card Dried Blood Spot | 3–4 Weeks (21–28 Business Days) | 2,800.00 AED | Details |
| UROS Gene Congenital Erythropoietic Porphyria (CEP) Genetic Test TEST-5933 LOINC 21671-7 | This genetic test analyzes the UROS gene for pathogenic variants associated with Congenital Erythropoietic Porphyria (CEP). It identifies mutations ca... | Peripheral Whole Blood or FTA Card (DNA) | 3–4 Weeks | 2,800.00 AED | Details |
| VLDLR Gene: Cerebellar Hypoplasia & Mental Retardation with or Without Quadrupedal Locomotion Test TEST-3976 LOINC 94133-1 | This test analyzes the VLDLR gene for pathogenic variants associated with specific neurodevelopmental disorders. | Whole Blood, Dried Blood Spot (FTA Card), or Extracted DNA | 3 to 4 weeks | 2,800.00 AED | Details |
| WDR34 Gene Sequencing (Short-Rib Thoracic Dysplasia Type 11 ± Polydactyly) Genetic Test TEST-2328 LOINC 21636-6 | This test evaluates the WDR34 gene for mutations associated with Short-Rib Thoracic Dysplasia Type 11 (SRTD11), a rare genetic disorder affecting skel... | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| WDR35 Gene (Cranioectodermal Dysplasia Type 2) Genetic Test TEST-2928 LOINC 90369-8 | This genetic test identifies pathogenic variants in the WDR35 gene associated with Cranioectodermal Dysplasia Type 2. | Whole blood, extracted DNA, or dried blood spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| WDR35 Gene Short-Rib Thoracic Dysplasia Type 7 With or Without Polydactyly Genetic Test TEST-2312 LOINC 21665-5 | This genetic test analyzes the WDR35 gene to identify mutations associated with short-rib thoracic dysplasia type 7. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3-4 Weeks | 2,800.00 AED | Details |
| WISP3 Gene Progressive Pseudorheumatoid Arthropathy of Childhood (PPAC) Genetic Test TEST-5357 LOINC 81267-1 | This test analyzes the WISP3 gene to detect variants associated with progressive pseudorheumatoid arthropathy of childhood (PPAC). It confirms the gen... | Peripheral blood (EDTA) or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| WRN Gene (Werner Syndrome) Genetic Test TEST-2190 LOINC 81247-9 | This test evaluates the WRN gene for pathogenic variants associated with Werner syndrome, a rare autosomal recessive disorder characterized by prematu... | Blood, Extracted DNA, FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| ZCCHC12 Gene Non‑Syndromic Intellectual Disability Genetic Test TEST-4782 LOINC 81247-9 | This test evaluates the ZCCHC12 gene for pathogenic variants associated with non-syndromic intellectual disability. | Peripheral Whole Blood (3-5 mL) or Saliva (2 mL) | 3–4 Weeks | 2,800.00 AED | Details |
| ZEB2 Gene Sequencing (NGS) for Congenital Central Hypoventilation Syndrome Test TEST-2990 LOINC 97179-1 | This test identifies pathogenic variants in the ZEB2 gene, providing a molecular diagnosis for congenital central hypoventilation syndrome (CCHS) and... | Peripheral whole blood (EDTA tube), buccal swab, or pre-extracted genomic DNA | 3–4 Weeks | 2,800.00 AED | Details |
| ZIC1 Gene Craniosynostosis Type 6 Genetic Test TEST-2908 LOINC 81247-9 | This test identifies pathogenic variants in the ZIC1 gene, which are associated with craniosynostosis type 6, a condition characterized by premature f... | Whole Blood (EDTA) / Extracted DNA / FTA Card | 3 to 4 Weeks from sample receipt | 2,800.00 AED | Details |
| ZIC3 Gene Heterotaxy Visceral Type 1 Genetic Test TEST-2793 LOINC 81265-5 | This test identifies pathogenic variants in the ZIC3 gene associated with visceral heterotaxy type 1. | Peripheral Whole Blood (EDTA), FTA Card, or Extracted Genomic DNA | 3–4 Weeks | 2,800.00 AED | Details |
| ZIC5 Gene Sequencing Test (NGS) for Brain Disorders TEST-2163 LOINC 51966-2 | This test identifies pathogenic variants in the ZIC5 gene associated with congenital brain malformations and developmental delays. | Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| ZNF469 Gene Brittle Cornea Syndrome Genetic Test TEST-3527 LOINC 98544-9 | This test evaluates the ZNF469 gene for pathogenic variants associated with Brittle Cornea Syndrome. | Whole Blood (EDTA) or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
Clinical overview
About Single Gene Sequencing
Achieving a definitive diagnosis for a monogenic disorder often requires reading the entire genetic code of a specific gene to find elusive errors. As an elite subspecialty within our Genetics department, Single Gene Sequencing expansively scans the entirety of a single targeted gene to uncover rare or novel mutations. Utilizing state-of-the-art diagnostic technology, this comprehensive molecular screening provides the critical clarity needed to establish a firm diagnosis, safely guiding customized medical management and targeted therapeutic interventions. Consistently ranked among the top diagnostic labs in the UAE, DNA Labs guarantees the utmost in patient confidentiality, uncompromising analytical accuracy, and prompt, reliable reporting. Find the clear, definitive answers you need—schedule your single gene sequencing testing in UAE, arrange a comfortable home sample collection, or contact our specialized medical genetics professionals.
Before your appointment
Preparation & sample collection
Follow the instructions you are given
Fasting, timing and medicine restrictions differ between investigations. The instructions for your specific request are confirmed when you book.
Bring your identification
A valid photo ID is required at collection so that your sample is matched correctly to your record.
Tell us about medicines
Prescription medicines, supplements and recent procedures can affect how an investigation is scheduled or interpreted — please mention them.
Ask before collection
If anything about preparation is unclear, contact us before your appointment. Preparation errors can affect reporting times.
Patient information
Frequently asked questions
Practical answers about Single Gene 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 Single 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 Single 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 Single 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
Related areas