Genetics
Genetic Disorders Tests in Dubai & UAE
Investigations in this area, with the specimen type, turnaround time and listed price for each option — so you and your clinician can compare before you book.
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Genetic Disorders investigations
All 136 investigations in this category are listed below.
| Test | What it measures | Specimen | Turnaround | Price | Book |
|---|---|---|---|---|---|
| AARS2 Gene Leukoencephalopathy with Ovarian Failure Genetic Test TEST-4798 LOINC 81323-7 | This genetic test identifies pathogenic variants in the AARS2 gene associated with progressive leukoencephalopathy and ovarian failure. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| ABCD1 Gene Sequencing for Adrenoleukodystrophy & Adrenomyeloneuropathy (NGS) Test TEST-3735 LOINC 64579-6 | This test analyzes the ABCD1 gene to detect pathogenic variants associated with X-linked adrenoleukodystrophy (X-ALD) and adrenomyeloneuropathy (AMN).... | Peripheral Whole Blood (EDTA) | 21–28 Days (3–4 Weeks) | 2,800.00 AED | Details |
| ACE Gene Renal Tubular Dysgenesis Genetic Test TEST-3528 LOINC 21636-6 | This genetic test identifies mutations in the ACE gene associated with autosomal recessive renal tubular dysgenesis. | Peripheral Whole Blood | 3 to 4 Weeks | 2,800.00 AED | Details |
| ADA2 Gene (CECR1) Genetic Testing for DADA2 & Sneddon Syndrome Test TEST-4000 LOINC 92879-2 | This test evaluates the entire ADA2 gene for pathogenic variants associated with Deficiency of Adenosine Deaminase 2 (DADA2) and related conditions li... | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| ADAR Gene Aicardi-Goutières Syndrome Type 6 Genetic Test TEST-3728 LOINC 82299-8 | This genetic test identifies pathogenic variants within the ADAR gene, confirming the diagnosis of Aicardi-Goutières syndrome type 6. | Peripheral whole blood (2 mL EDTA) | 3–4 weeks | 2,800.00 AED | Details |
| Alpha-2-Macroglobulin Deficiency Genetic Test (A2M NGS) TEST-6077 LOINC 91854-7 | This test identifies genetic variants in the A2M gene associated with alpha-2-macroglobulin deficiency. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| AMACR Gene (Bile Acid Synthesis Defect Type 4, Congenital) Genetic Test TEST-6035 LOINC 47956-1 | This test analyzes the AMACR gene for pathogenic variants associated with congenital bile acid synthesis defect type 4. | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| AMELX Gene Sequencing Test (Amelogenesis Imperfecta, Type 1E) TEST-5453 LOINC 81353-1 | This test evaluates the AMELX gene for mutations associated with X-linked Amelogenesis Imperfecta Type 1E. | Whole Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card | 3-4 Weeks | 2,800.00 AED | Details |
| Angelman Syndrome Genetic Test TEST-259 LOINC 21774-8 | This test evaluates DNA methylation patterns at the 15q11-q13 locus to diagnose Angelman syndrome. | EDTA whole blood | 12 Working Days | 1,500.00 AED | Details |
| ARMC4 Gene Primary Ciliary Dyskinesia Type 23 Genetic Test TEST-5505 LOINC 21636-5 | This test identifies pathogenic variants in the ARMC4 gene associated with primary ciliary dyskinesia type 23 (PCD23). | Whole Blood (EDTA), Extracted DNA, Dried Blood Spot (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| ATR Gene Seckel Syndrome Type 1 Next-Generation Sequencing (Genetic Test TEST-2359 LOINC 81267-6 | This genetic test identifies pathogenic variants in the ATR gene associated with Seckel syndrome type 1. | Whole blood, extracted DNA, or dried blood spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| B4GALT7 Gene Ehlers-Danlos Syndrome Progeroid Type 1 Genetic Test TEST-5185 LOINC 21665-7 | This genetic test identifies pathogenic variants in the B4GALT7 gene associated with Ehlers-Danlos syndrome progeroid type 1. | Whole Blood (EDTA, 2–5 mL) or FTA Card | 21–28 Business Days | 2,800.00 AED | Details |
| BBS10 Gene Bardet‑Biedl Syndrome Type 10 Genetic Test TEST-3961 LOINC 92766-8 | This genetic test identifies pathogenic variants within the BBS10 gene, which are associated with Bardet-Biedl syndrome type 10. | Peripheral Whole Blood | 3–4 weeks | 2,800.00 AED | Details |
| BMP4 Gene Genetic Test (Orofacial Cleft Type 11) TEST-2472 LOINC 98527-6 | This diagnostic test evaluates the BMP4 gene for pathogenic variants associated with nonsyndromic orofacial cleft type 11. | Peripheral whole blood (EDTA) or buccal swab / FTA card | 3–4 weeks (12–16 business days) | 2,800.00 AED | Details |
| BRAT1 Gene Neurodevelopmental Disorder with Cerebellar Atrophy and with or without Seizures Genetic Test TEST-5411 LOINC 77186-9 | This test identifies pathogenic variants in the BRAT1 gene, associated with a rare neurodevelopmental syndrome. | Whole Blood (3–5 mL EDTA), Extracted DNA (min 2 µg), or FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| C4orf26 Gene Amelogenesis Imperfecta Type 2A4 Genetic Test TEST-5396 LOINC 21636-6 | This test identifies disease-causing mutations in the C4orf26 gene associated with Amelogenesis Imperfecta Type 2A4. | Whole blood, extracted DNA, dried blood spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| CCDC40 Gene Analysis (Primary Ciliary Dyskinesia Type 15) Genetic Test TEST-5576 LOINC 21665-6 | This test identifies pathogenic variants in the CCDC40 gene associated with Primary Ciliary Dyskinesia Type 15. | Peripheral whole blood (3–5 mL) or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| CD59 Gene Hemolytic Anemia Genetic Test TEST-5033 LOINC 94477-0 | This test identifies pathogenic variants in the CD59 gene associated with hemolytic anemia and immune-mediated polyneuropathy. | Whole Blood (Peripheral) | 3 to 4 Weeks | 2,800.00 AED | Details |
| CDC73 Gene Hyperparathyroidism Type 1, Familial Genetic Test TEST-3745 LOINC 92937-7 | This genetic test identifies mutations in the CDC73 gene associated with Familial Hyperparathyroidism Type 1. | Peripheral Whole Blood | 3 to 4 Weeks | 2,800.00 AED | Details |
| CELSR2 Gene Genetic Testing for Schizophrenia Risk Assessment Test TEST-5666 LOINC 81409-6 | This test evaluates the CELSR2 gene for variants associated with an increased risk of developing schizophrenia spectrum disorders. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| CFHR5 Gene Hemolytic Uremic Syndrome Genetic Test TEST-3768 LOINC 21673-3 | This test identifies pathogenic variants in the CFHR5 gene associated with atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy. | Whole blood (EDTA) or extracted genomic DNA | 3–4 Weeks | 2,800.00 AED | Details |
| CHM Gene Choroideremia Genetic Test TEST-2964 LOINC 92811-6 | This genetic test analyzes the CHM gene for mutations associated with choroideremia, an inherited eye disorder causing progressive vision loss. | Peripheral whole blood (EDTA) or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| CHRND Gene Myasthenic Syndrome (Congenital, Type 3B, Fast-Channel) Genetic Test TEST-5217 LOINC 21636-6 | This test evaluates the CHRND gene for mutations associated with Congenital Myasthenic Syndrome type 3B (fast-channel). It identifies specific genetic... | Whole blood (EDTA tube), extracted DNA (≥1 µg), or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| Chromosome 15q11 Gene Analysis for Prader-Willi Syndrome (NGS) Test TEST-5607 LOINC 49637-7 | This test evaluates the chromosome 15q11.2-q13 region for genetic abnormalities associated with Prader-Willi syndrome. | Whole Blood (Peripheral) | 3 – 4 Weeks (from sample receipt) | 2,800.00 AED | Details |
| CLDN19 Gene Hypomagnesemia Type 5 Genetic Test TEST-6114 LOINC 81342-1 | This test identifies mutations in the CLDN19 gene, which are responsible for familial primary hypomagnesemia with renal magnesium wasting (Type 5). | Peripheral whole blood (EDTA tube) | 3 – 4 weeks | 2,800.00 AED | Details |
| COG8 Gene Glycosylation Disorder Type 2H Genetic Test TEST-6335 LOINC 102286-1 | This test evaluates the COG8 gene for variants associated with Congenital Disorder of Glycosylation Type 2H (CDG-IIh). It identifies single-nucleotide... | Whole Blood (EDTA), FTA Card Spot, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| COL11A2 Gene Otospondylomegaepiphyseal Dysplasia Genetic Test TEST-2455 LOINC 82939-0 | This test analyzes the COL11A2 gene for pathogenic variants associated with Otospondylomegaepiphyseal Dysplasia (OSMED). It utilizes Next-Generation S... | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| COL1A1 Gene Osteogenesis Imperfecta Genetic Test TEST-4717 LOINC 69548-6 | This test analyzes the entire COL1A1 gene using Next Generation Sequencing to identify mutations associated with Osteogenesis Imperfecta. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| COL3A1 Gene Ehlers-Danlos Syndrome Type 3 Genetic Test TEST-5167 LOINC 21636-6 | This genetic test evaluates the COL3A1 gene for mutations associated with vascular Ehlers-Danlos syndrome (vEDS). It identifies pathogenic variants, i... | Peripheral whole blood | 3–4 Weeks | 2,800.00 AED | Details |
| COL4A4 Alport Syndrome Autosomal Recessive Genetic Test TEST-5803 LOINC 101231-1 | This test detects pathogenic variants in the COL4A4 gene associated with Autosomal Recessive Alport Syndrome. | Peripheral Whole Blood, FTA Card, or Extracted DNA | 21–28 Days | 2,800.00 AED | Details |
| COL5A2 Gene Classical Ehlers-Danlos Syndrome (cEDS) NGS Test TEST-5210 LOINC 94219-3 | This test evaluates the COL5A2 gene for pathogenic variants associated with classical Ehlers-Danlos syndrome. | Whole blood (EDTA), extracted DNA, or dried blood spot on FTA card | 21–28 working days | 2,800.00 AED | Details |
| COL7A1 Gene Dystrophic Epidermolysis Bullosa (DEB) Genetic Test TEST-5141 LOINC 21638-7 | This genetic test evaluates the COL7A1 gene for pathogenic variants associated with Dystrophic Epidermolysis Bullosa (DEB). | Peripheral blood, extracted DNA, or dried blood spot | 3 to 4 weeks | 2,800.00 AED | Details |
| COX4I2 Gene Dyserythropoietic Anemia Genetic Test TEST-3271 LOINC 21663-1 | This test identifies pathogenic variants in the COX4I2 gene associated with congenital dyserythropoietic anemia type IV. | Whole Blood (Peripheral Venipuncture) | 21–28 calendar days | 2,800.00 AED | Details |
| CR1 Gene CR1 Deficiency Genetic Test TEST-4154 LOINC 81339-1 | This test evaluates the CR1 gene for pathogenic variants associated with complement deficiency disorders and related neurological conditions. | Peripheral blood (EDTA whole blood) | 3 – 4 weeks | 2,800.00 AED | Details |
| CREBBP Gene Rubinstein‑Taybi Syndrome Genetic Test TEST-2384 LOINC 81268-8 | This genetic test analyzes the CREBBP gene to identify mutations associated with Rubinstein‑Taybi syndrome. | Peripheral Whole Blood (EDTA) | 3 to 4 Weeks | 2,800.00 AED | Details |
| CTSC Gene Haim-Munk Syndrome (Papillon-Lefèvre Spectrum) Genetic Test TEST-5036 LOINC 54257-1 | This genetic test identifies pathogenic mutations in the CTSC gene associated with Haim-Munk syndrome and Papillon-Lefèvre spectrum disorders. | Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| DCXR Gene Pentosuria Genetic Test TEST-5897 LOINC 55233-1 | This test identifies genetic variants in the DCXR gene associated with essential pentosuria. | Peripheral Whole Blood | 15–18 Business Days | 2,800.00 AED | Details |
| DDC Gene (Aromatic L-Amino Acid Decarboxylase Deficiency, AADC) Next‑Generation Sequencing (NGS) Genetic Test TEST-6117 LOINC 94477-3 | This genetic test evaluates the DDC gene for variants associated with Aromatic L-Amino Acid Decarboxylase deficiency (AADC), a severe neurometabolic d... | Peripheral whole blood (EDTA), saliva, or FTA card (extracted DNA accepted) | 3 – 4 Weeks from sample receipt | 2,800.00 AED | Details |
| DDX59 Gene Orofaciodigital Syndrome Type 5 Genetic Test TEST-2460 LOINC 94223-5 | This diagnostic test evaluates the DDX59 gene for pathogenic variants associated with Orofaciodigital Syndrome Type 5 (OFD5). | Whole blood (EDTA) or FTA card finger-prick; also accepts extracted genomic DNA | 3–4 weeks (21–28 calendar days) | 2,800.00 AED | Details |
| DHCR7 Gene (Smith‑Lemli‑Opitz Syndrome) Genetic Test TEST-2295 LOINC 21636-6 | This test identifies pathogenic variants in the DHCR7 gene, confirming a diagnosis of Smith‑Lemli‑Opitz syndrome. | Whole Blood (EDTA) or Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| DNAH11 Gene Primary Ciliary Dyskinesia Type 7 Genetic Test TEST-5485 LOINC 21636-6 | This genetic test detects pathogenic variants in the DNAH11 gene, which are responsible for Primary Ciliary Dyskinesia type 7. | Peripheral Whole Blood | 3 – 4 Weeks | 2,800.00 AED | Details |
| DPAGT1 Gene Glycosylation Disorder Type 1J Genetic Test TEST-6305 LOINC 81309-8 | This test sequences the DPAGT1 gene to identify pathogenic variants associated with Congenital Disorder of Glycosylation Type 1J (CDG-1J). | Whole blood (EDTA), dried blood spot (FTA card), or extracted genomic DNA | 3 to 4 weeks | 2,800.00 AED | Details |
| DPM1 Gene Congenital Disorder of Glycosylation Type Ie (CDG‑Ie) Genetic Test TEST-6367 LOINC 21665-7 | This test evaluates the DPM1 gene for mutations associated with Congenital Disorder of Glycosylation Type Ie (CDG‑Ie). | Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| DSE Gene (Ehlers-Danlos Syndrome, Musculocontractural Type 2) Genetic Test TEST-5147 LOINC 81249-1 | This test identifies mutations in the DSE gene associated with Ehlers-Danlos Syndrome, musculocontractural type 2. | Whole Blood (EDTA), Buccal Swab, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| EEF1A2 Gene Early Infantile Epileptic Encephalopathy Type 33 Genetic Test TEST-4326 LOINC 91847-8 | This test identifies pathogenic variants in the EEF1A2 gene associated with Early Infantile Epileptic Encephalopathy Type 33. | Peripheral blood (3–5 mL EDTA) or buccal swab | 3–4 weeks | 2,800.00 AED | Details |
| EGF Gene Hypomagnesemia Type 4 Genetic Test TEST-6172 LOINC 50398-7 | This test evaluates the entire coding region and exon-intron boundaries of the EGF gene for pathogenic variants associated with Autosomal Dominant Hyp... | Whole blood (EDTA tube), extracted DNA (≥1 µg), or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| EHMT1 Gene Kleefstra Syndrome Genetic Test TEST-2682 LOINC 21636-6 | This test detects pathogenic variants in the EHMT1 gene, confirming a diagnosis of Kleefstra syndrome. | Whole blood (EDTA) or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| EIF2B5 Gene Leukoencephalopathy with Vanishing White Matter Genetic Test TEST-4699 LOINC 81247-9 | This genetic test detects pathogenic mutations in the EIF2B5 gene associated with Vanishing White Matter disease. | Peripheral whole blood (EDTA), dried blood spot (FTA card), or extracted DNA | 3 to 4 weeks | 2,800.00 AED | Details |
| ERCC2 Gene Trichothiodystrophy Genetic Test TEST-4501 LOINC 21639-2 | This genetic test evaluates the ERCC2 gene for variants associated with trichothiodystrophy. | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| ERCC6 Gene (UV-Sensitive Syndrome Type 1) Genetic Test TEST-4491 LOINC 94464-0 | This test identifies mutations in the ERCC6 gene associated with UV-sensitive syndrome type 1. | Peripheral Whole Blood or Buccal Swab | 3 to 4 Weeks | 2,800.00 AED | Details |
| ERCC6 Gene Cockayne Syndrome Type B Genetic Test TEST-2952 LOINC 81304-3 | This genetic test identifies pathogenic variants in the ERCC6 gene associated with Cockayne syndrome type B. | Whole blood (EDTA), Saliva, or FTA card | 3–4 Weeks from sample receipt | 2,800.00 AED | Details |
| FBLIM1 Gene (Kindler Syndrome) Genetic Test TEST-4853 LOINC 59025-7 | This test evaluates the entire FBLIM1 gene for mutations associated with Kindler syndrome. | Peripheral Whole Blood (or extracted DNA / dried blood spot on FTA card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| FBN1 Gene Sequencing Test (Ectopia Lentis, Familial) TEST-3636 LOINC 97636-1 | This test evaluates the FBN1 gene for pathogenic variants associated with familial ectopia lentis and Marfan syndrome. | Whole blood, FTA card, or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| FBN1 Gene Stiff Skin Syndrome Genetic Test TEST-2262 LOINC 88515-7 | This genetic test analyzes the FBN1 gene to detect pathogenic variants associated with stiff skin syndrome. | Whole blood (EDTA), extracted DNA, or FTA card (dried blood spot) | 3 to 4 weeks from sample arrival | 2,800.00 AED | Details |
| FBN2 Gene Congenital Contractural Arachnodactyly Genetic Test TEST-5263 LOINC 60436-5 | This diagnostic test evaluates the FBN2 gene for pathogenic variants associated with congenital contractural arachnodactyly (Beals syndrome). | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| FECH Gene Sequencing for Erythropoietic Protoporphyria (EPP) Test TEST-4623 LOINC 81303-8 | This test identifies pathogenic variants in the FECH gene, providing a definitive molecular diagnosis for Erythropoietic Protoporphyria (EPP). | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| FERMT1 Gene Kindler Syndrome Genetic Test TEST-4835 LOINC 21636-6 | This test evaluates the FERMT1 gene for pathogenic variants associated with Kindler syndrome. | Peripheral Whole Blood (EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| FGF23 Gene, Autosomal Dominant Hypophosphatemic Rickets Test TEST-5003 LOINC 91653-5 | This test analyzes the FGF23 gene to identify mutations causing Autosomal Dominant Hypophosphatemic Rickets (ADHR). | Whole Blood (EDTA), FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| FLNA Gene (Frontometaphyseal Dysplasia) Genetic Test TEST-4425 LOINC 48804-5 | This test identifies pathogenic variants in the FLNA gene associated with frontometaphyseal dysplasia. | Venous Blood (EDTA) or Buccal Swab / DNA FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| FMO3 Gene Trimethylaminuria Genetic Test TEST-5836 LOINC 94137-0 | This test identifies pathogenic variants in the FMO3 gene, confirming a genetic diagnosis of Trimethylaminuria (TMAU). | Peripheral Whole Blood (EDTA) or Saliva | 3 – 4 Weeks | 2,800.00 AED | Details |
| FOXG1 Gene Sequencing Test TEST-2390 LOINC 98723-6 | This test evaluates the entire coding region of the FOXG1 gene for sequence changes, deletions, and duplications. | Peripheral Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| FUCA1 Gene Fucosidosis Next‑Generation Sequencing (NGS) Genetic Test TEST-4499 LOINC 94721-2 | This genetic test sequences the FUCA1 gene to detect mutations associated with fucosidosis. | Peripheral whole blood (EDTA), dried blood spot, or extracted genomic DNA | 3–4 Weeks | 2,800.00 AED | Details |
| GDF3 Gene Klippel-Feil Syndrome Type 3, Autosomal Dominant Genetic Test TEST-2669 LOINC 81245-6 | This diagnostic test evaluates the GDF3 gene for pathogenic variants associated with Klippel-Feil syndrome type 3. | Peripheral blood, dried blood spot (FTA card), or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| GLB1 Gene GM1 Gangliosidosis Type 1 Genetic Test TEST-6316 LOINC 21656-0 | This test identifies pathogenic variants in the GLB1 gene associated with GM1 gangliosidosis type 1. | Whole Blood (Peripheral) or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| GNAS Gene Pseudohypoparathyroidism Type 1A Genetic Test TEST-3512 LOINC 48018-6 | This test identifies pathogenic variants in the GNAS gene associated with pseudohypoparathyroidism type 1A. | Peripheral whole blood (EDTA), extracted DNA, or buccal swab (Oragene DNA collection kit) | 3 to 4 weeks from sample receipt | 2,800.00 AED | Details |
| GPHN Gene Molybdenum Cofactor Deficiency Type C Genetic Test TEST-6009 LOINC 93722-8 | This genetic test identifies pathogenic variants in the GPHN gene associated with Molybdenum Cofactor Deficiency Type C. | Peripheral whole blood (EDTA) or buccal swab | 3 – 4 Weeks | 2,800.00 AED | Details |
| GSS Gene Glutathione Synthetase Deficiency Genetic Test TEST-6390 LOINC 94030-2 | This genetic test evaluates the GSS gene for mutations associated with glutathione synthetase deficiency. | Whole Blood (EDTA, 3–5 mL), Extracted DNA, or FTA Card | 3–4 Weeks (21–28 Days) | 2,800.00 AED | Details |
| HOXD13 Gene Syndactyly Type 5 Genetic Test TEST-2268 LOINC 21636-6 | This test identifies pathogenic variants in the HOXD13 gene to confirm a diagnosis of syndactyly type 5 (SD5), a hereditary hand malformation. | Peripheral whole blood (EDTA tube) | 3–4 weeks | 2,800.00 AED | Details |
| HPS1 Gene Hermansky-Pudlak Syndrome Type 1 Genetic Test TEST-3684 LOINC 90291-7 | This test identifies pathogenic mutations in the HPS1 gene, confirming a diagnosis of Hermansky-Pudlak syndrome type 1. | Whole Blood (EDTA) or FTA Card Specimen | 3–4 Weeks | 2,800.00 AED | Details |
| HR Gene Atrichia with Papular Lesions Genetic Test TEST-5389 LOINC 21636-6 | This genetic test analyzes the HR gene for mutations causing Atrichia with Papular Lesions (APL). It identifies biallelic loss-of-function mutations a... | Peripheral whole blood (EDTA), extracted DNA, or FTA card (finger‑prick) | 3–4 weeks | 2,800.00 AED | Details |
| INSR Gene Diabetes Mellitus, Insulin-Resistant with Acanthosis Nigricans Genetic Test TEST-6224 LOINC 21636-6 | This genetic test evaluates the insulin receptor gene (INSR) for variants associated with severe insulin resistance and diabetes mellitus. | Peripheral Whole Blood or FTA Card (Dried Blood Spot) | 21–28 business days | 2,800.00 AED | Details |
| IQCE Gene Autism Genetic Test TEST-3897 LOINC 81265-4 | This test identifies pathogenic variants in the IQCE gene associated with Autism Spectrum Disorder. | Whole Blood, Extracted DNA, or FTA Card Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| IRF6 Gene (Popliteal Pterygium Syndrome Type 1) Genetic Test TEST-2407 LOINC 92282-3 | This genetic test analyzes the IRF6 gene to identify pathogenic variants associated with Popliteal Pterygium Syndrome Type 1 (PPS1). It helps confirm... | Whole blood (EDTA), extracted DNA, or FTA card blood spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| IRF6 Gene Van der Woude Syndrome Type 1 Genetic Test TEST-2204 LOINC 94139-6 | This genetic test identifies mutations in the IRF6 gene associated with Van der Woude syndrome Type 1. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| IRX5 Gene Hamamy Syndrome Genetic Test TEST-2804 LOINC 10155-0 | This test identifies pathogenic variants in the IRX5 gene associated with Hamamy syndrome. | Whole Blood (EDTA tube, 3–5 mL), Extracted DNA (minimum 1 µg at 20 ng/µL), or Dried Blood Spot on FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| KANK1 Gene Cerebral Palsy (Spastic Quadriplegic) Genetic Test TEST-4034 LOINC 92822-6 | This test identifies pathogenic variants in the KANK1 gene associated with autosomal recessive spastic quadriplegic cerebral palsy type 2. | Peripheral whole blood (2–3 mL) or dried blood spot on FTA card | 14 to 28 calendar days | 2,800.00 AED | Details |
| LMNA Gene Lipodystrophy Type 2, Familial Partial Genetic Test TEST-6063 LOINC 55233-1 | This test identifies pathogenic variants in the LMNA gene associated with familial partial lipodystrophy type 2 (FPLD2). | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| LPL Gene Hyperlipoproteinemia Type 1 Genetic Test TEST-6170 LOINC 21636-6 | This test detects pathogenic variants in the LPL gene associated with familial chylomicronemia syndrome and severe hypertriglyceridemia. | Whole Blood (EDTA) or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| LRP5 Gene Osteoporosis‑Pseudoglioma Syndrome DNA Test (NGS) TEST-4664 LOINC 81246-7 | This diagnostic test evaluates the LRP5 gene for pathogenic variants associated with autosomal recessive osteoporosis‑pseudoglioma syndrome (OPPG). It... | Whole blood (EDTA), extracted DNA, FTA card | 3–4 weeks | 2,800.00 AED | Details |
| MASP1 Gene 3MC Syndrome Type 1 Genetic Test (NGS) TEST-5458 LOINC 94041-1 | This test evaluates the MASP1 gene for variants associated with 3MC syndrome type 1. | Whole Blood (Peripheral) | 3 to 4 Weeks | 2,800.00 AED | Details |
| MGAT2 Gene Glycosylation Disorder Type 2A Genetic Test TEST-4459 LOINC 51966-7 | This test identifies pathogenic variants in the MGAT2 gene, confirming a diagnosis of congenital disorder of glycosylation type IIa (CDG-IIa). | Peripheral Whole Blood (EDTA) or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| MID1 Gene Opitz G/BBB Syndrome Genetic Test TEST-5495 LOINC 82939-0 | This genetic test analyzes the MID1 gene to identify pathogenic variants associated with Opitz G/BBB syndrome. | Whole blood (EDTA), extracted DNA (≥2 µg), or dried blood spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| MKS1 Gene Bardet-Biedl Syndrome Type 13 Genetic Test TEST-3912 LOINC 92748-5 | This test detects pathogenic variants in the MKS1 gene associated with Bardet-Biedl syndrome type 13. | Whole Blood, Dried Blood Spot on FTA Card, or Previously Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| MOCS2 Gene Molybdenum Cofactor Deficiency Type B Genetic Test TEST-5956 LOINC 52297-8 | This test identifies pathogenic variants in the MOCS2 gene associated with Molybdenum Cofactor Deficiency Type B. | Peripheral Whole Blood, Extracted DNA, or FTA Card | 3 – 4 weeks | 2,800.00 AED | Details |
| MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 (COXPD10) Genetic Test TEST-6129 LOINC 82939-0 | This genetic test identifies pathogenic mutations in the MTO1 gene, confirming a diagnosis of Combined Oxidative Phosphorylation Deficiency Type 10. | Whole Blood (peripheral venipuncture) | 3–4 Weeks | 2,800.00 AED | Details |
| MYO5B Gene Diarrhea Type 2 with Microvillus Atrophy Genetic Test TEST-5247 LOINC 82308-7 | This genetic test analyzes the MYO5B gene to detect variants causing microvillus inclusion disease, a severe form of congenital diarrhea. | Peripheral Whole Blood (EDTA), Extracted Genomic DNA (≥1 µg), or FTA Card Spot | 21–28 Calendar Days | 2,800.00 AED | Details |
| Next-Generation Sequencing (NGS): Canavan Disease Test TEST-2731 LOINC 94772-7 | This test identifies mutations within the ASPA gene associated with Canavan disease. | Peripheral Whole Blood (Lavender Top EDTA Tube) | 40 Working Days | 2,600.00 AED | Details |
| NPHP3 Gene Nephronophthisis Type 3 Genetic Test TEST-3607 LOINC 88615-4 | This genetic test identifies pathogenic variants in the NPHP3 gene associated with nephronophthisis type 3. | Peripheral whole blood (5 mL EDTA tube) | 3 to 4 Weeks | 2,800.00 AED | Details |
| Nx Gen Sequencing: Episodic Ataxia Test TEST-2729 LOINC 81331-4 | This test identifies genetic mutations associated with episodic ataxia types 1, 2, and related inherited ataxias. | Peripheral whole blood | 40 working days | 2,600.00 AED | Details |
| PARN Gene Dyskeratosis Congenita (Autosomal Recessive Type 6) Genetic Test TEST-5195 LOINC 100203-7 | This genetic test identifies pathogenic variants in the PARN gene associated with Dyskeratosis Congenita autosomal recessive type 6. | Peripheral Whole Blood (EDTA) or Saliva (Oragene DNA Kit) | 3–4 Weeks | 2,800.00 AED | Details |
| PCCA Gene Propionic Acidemia Genetic Test TEST-5860 LOINC 82153-1 | This test evaluates the PCCA gene for pathogenic variants associated with propionic acidemia. | Peripheral Whole Blood (EDTA) or Extracted DNA | 10–14 Business Days | 2,800.00 AED | Details |
| PCSK1 Gene Obesity with Impaired Prohormone Processing Genetic Test TEST-3578 LOINC 94473-2 | This genetic test evaluates the PCSK1 gene for pathogenic variants associated with monogenic obesity due to impaired prohormone processing. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3 – 4 Weeks | 2,800.00 AED | Details |
| PDCD10 Gene Cerebral Cavernous Malformations Type 3 Genetic Test TEST-4056 LOINC 21665-0 | This genetic test identifies pathogenic variants in the PDCD10 gene associated with Cerebral Cavernous Malformations Type 3 (CCM3). | Whole Blood (EDTA), Buccal Swab, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| PDSS2 Gene Coenzyme Q10 Deficiency Type 3 Genetic Test TEST-4083 LOINC 55232-0 | This test identifies pathogenic variants in the PDSS2 gene responsible for primary Coenzyme Q10 deficiency type 3. | Peripheral Whole Blood (3–5 mL in EDTA tube) or Dried Blood Spot Card | 3–4 Weeks (21–28 Calendar Days) | 2,800.00 AED | Details |
| PEX1 Gene Heimler Syndrome Type 1 Genetic Test TEST-5066 LOINC 82080-1 | This genetic test identifies pathogenic variants in the PEX1 gene associated with Heimler syndrome. | Whole Blood (EDTA), Extracted DNA, FTA Card | 3–4 Weeks from sample accession | 2,800.00 AED | Details |
| PEX26 Gene Zellweger Spectrum Disorder (ZSD) Genetic Test TEST-5983 LOINC 55232-2 | This genetic test identifies pathogenic variants, including copy number changes, within the PEX26 gene. | Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| Phelan-McDermid Syndrome (22q13.3) Genetic Test TEST-2431 LOINC 10882-0 | This test detects deletions or pathogenic variants in the SHANK3 gene and the 22q13.3 chromosomal region associated with Phelan-McDermid syndrome. | Peripheral Whole Blood or FTA Card (Dried Blood Spots) | 3–4 Weeks | 2,800.00 AED | Details |
| PKHD1 Gene Polycystic Kidney and Hepatic Disease Genetic Test TEST-3546 LOINC 76430-0 | This genetic test identifies mutations in the PKHD1 gene associated with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and hepatic fibrosis. | Whole Blood, Extracted DNA, or FTA Card (Dried Blood Spot) | 3–4 weeks | 2,800.00 AED | Details |
| PNPLA6 Gene SPG39 Next-Generation Sequencing (NGS) Genetic Test TEST-5751 LOINC 81444-0 | This test identifies pathogenic variants in the PNPLA6 gene associated with hereditary spastic paraplegia type 39 and related neurodegenerative disord... | Peripheral Blood (3-5 mL in EDTA tube) or Buccal Swab (FTA card) | 3 to 4 weeks | 2,800.00 AED | Details |
| POLG Gene Neuropathy with Sensory Ataxic Dysarthria and Ophthalmoparesis Genetic Test TEST-5368 LOINC 50397-9 | This test evaluates the entire POLG gene for pathogenic variants associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO) s... | Whole Blood (EDTA) or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| Polycystic Kidney Disease Gene Panel Test TEST-1219 LOINC 94038-6 | This test identifies pathogenic variants in genes associated with autosomal dominant and recessive polycystic kidney disease using next-generation seq... | Peripheral whole blood (adults/children); amniotic fluid or chorionic villus (prenatal – hospital extraction only) | 4–6 weeks | 4,800.00 AED | Details |
| POMC Gene (Obesity, Adrenal Insufficiency, Red Hair) Genetic Test TEST-3623 LOINC 93476-3 | This test evaluates the POMC gene for pathogenic variants associated with early-onset obesity, adrenal insufficiency, and red hair syndrome. | Peripheral Venous Whole Blood or FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| PRODH Gene (Hyperprolinemia Type 1) Genetic Test TEST-6146 LOINC 83512-6 | This genetic test analyzes the PRODH gene for variants associated with Hyperprolinemia Type 1, an inherited metabolic disorder. | Whole Blood (Peripheral) or DNA FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| Prolidase Deficiency (PEPD) Genetic Test TEST-2414 LOINC 55231-0 | This test identifies pathogenic variants in the PEPD gene associated with prolidase deficiency. | Blood (EDTA), Dried Blood Spot (FTA Card), Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| PUS3 Gene Intellectual Disability Type 55 Genetic Test TEST-4884 LOINC 94754-5 | This test identifies pathogenic variants in the PUS3 gene associated with autosomal recessive intellectual disability type 55 (MRT55). | Whole blood (EDTA), DNA FTA card, or extracted DNA | 21–28 Business Days (3–4 Weeks) | 2,800.00 AED | Details |
| PYCR1 Gene, Cutis Laxa Type 2B, Autosomal Recessive Genetic Test TEST-5236 LOINC 21636-6 | This test identifies pathogenic mutations in the PYCR1 gene to confirm Autosomal Recessive Cutis Laxa Type 2B. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| RAB23 Gene Carpenter Syndrome Genetic Test TEST-3022 LOINC 47708-2 | This test sequences the RAB23 gene to detect pathogenic variants associated with Carpenter syndrome. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| RANBP2 Gene Encephalopathy, Acute Necrotizing Type 1, Genetic Test TEST-4382 LOINC 82267-6 | This genetic test identifies disease-causing variants in the RANBP2 gene associated with Acute Necrotizing Encephalopathy Type 1. | Peripheral whole blood (EDTA), extracted genomic DNA, or dried blood spot on FTA card | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| RPIA Gene Ribose 5‑Phosphate Isomerase Deficiency Genetic Test TEST-5829 LOINC 92252-5 | This test evaluates the RPIA gene for pathogenic variants associated with ribose 5-phosphate isomerase deficiency. | Whole Blood (EDTA), Extracted DNA, or FTA Card Spot | 3-4 Weeks | 2,800.00 AED | Details |
| RTTN Gene Microcephaly, Short Stature, and Polymicrogyria with Seizures Genetic Test TEST-2533 LOINC 21775-6 | This test analyzes the entire coding region of the RTTN gene to identify pathogenic variants associated with microcephaly, short stature, and polymicr... | Whole Blood or Buccal Swab | 3–4 Weeks | 2,800.00 AED | Details |
| RXFP2 Gene Cryptorchidism Genetic Test TEST-3428 LOINC 81247-9 | This test identifies pathogenic variants in the RXFP2 gene associated with cryptorchidism. | Peripheral whole blood or FTA card | 3 to 4 weeks from sample receipt | 2,800.00 AED | Details |
| SBDS Gene Shwachman-Diamond Syndrome Genetic Test TEST-3174 LOINC 81264-9 | This test evaluates the SBDS gene for pathogenic variants associated with Shwachman-Diamond syndrome. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 7-10 Business Days | 2,800.00 AED | Details |
| SEPSECS Gene Pontocerebellar Hypoplasia Type 2D Genetic Test TEST-5591 LOINC 92618-6 | This genetic test identifies pathogenic variants in the SEPSECS gene associated with pontocerebellar hypoplasia type 2D. | Whole Blood (EDTA) or FTA Card (Dried Blood Spot) | 3–4 Weeks (expedited reporting available) | 2,800.00 AED | Details |
| SERAC1 Gene 3‑Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh‑like Syndrome Genetic Test TEST-5934 LOINC 94222-1 | This test evaluates the SERAC1 gene for pathogenic variants associated with 3‑methylglutaconic aciduria with deafness, encephalopathy, and Leigh‑like... | Whole Blood (Peripheral) or Genomic DNA Extract | 3-4 Weeks | 2,800.00 AED | Details |
| SLC12A3 Gene Gitelman Syndrome Genetic Test TEST-3844 LOINC 94734-5 | This genetic test identifies pathogenic variants in the SLC12A3 gene, confirming the molecular basis of Gitelman syndrome. | Whole Blood (Peripheral Venous) | 3 – 4 Weeks | 2,800.00 AED | Details |
| SLC12A5 Gene Bartter Syndrome Genetic Test TEST-3927 LOINC 69547-9 | This genetic test evaluates the SLC12A5 gene for mutations associated with Bartter syndrome type 3. | Venous Blood, FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| SLC19A2 Gene Thiamine-Responsive Megaloblastic Anemia Syndrome Genetic Test TEST-3182 LOINC 94810-3 | This test identifies pathogenic variants in the SLC19A2 gene, confirming a diagnosis of thiamine-responsive megaloblastic anemia syndrome (TRMA). | Peripheral whole blood (EDTA tube) or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| SLC22A5 Gene Carnitine Deficiency Genetic Test TEST-6054 LOINC 83092-2 | This genetic test evaluates the SLC22A5 gene for pathogenic variants associated with primary carnitine deficiency. | Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| SLC24A4 Gene Amelogenesis Imperfecta Type 2A5 Genetic Test TEST-5433 LOINC 55233-1 | This genetic test identifies pathogenic variants in the SLC24A4 gene associated with Amelogenesis Imperfecta Type 2A5. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| SLC26A2 Gene Achondrogenesis Type 1B Genetic Test TEST-5502 LOINC 76076-3 | This test evaluates the SLC26A2 gene for pathogenic variants associated with Achondrogenesis Type 1B. | Peripheral whole blood | 3–4 Weeks | 2,800.00 AED | Details |
| SLC2A2 Gene Fanconi-Bickel Syndrome Test TEST-3872 LOINC 101399-9 | This genetic test analyzes the SLC2A2 gene to identify pathogenic variants associated with Fanconi-Bickel Syndrome. | Whole Blood / Extracted DNA / FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| SLC6A5 Gene Hyperekplexia Genetic Test TEST-4539 LOINC 86238-7 | This diagnostic test evaluates the entire coding region of the SLC6A5 gene for pathogenic variants associated with hereditary hyperekplexia. | Whole Blood (EDTA tube), Extracted DNA (≥1µg), or One Drop Blood on FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| SLC6A9 Gene Glycine Encephalopathy with Normal Serum Glycine Genetic Test TEST-6388 LOINC 82939-0 | This test identifies disease-causing variants in the SLC6A9 gene associated with glycine encephalopathy, particularly when serum glycine levels are no... | Whole Blood, Extracted DNA, or FTA Card (dried blood spot) | 3–4 Weeks | 2,800.00 AED | Details |
| SMARCAL1 Gene Schimke Immuno‑Osseous Dysplasia Genetic Test (NGS) TEST-3209 LOINC 81247-9 | This test identifies pathogenic variants in the SMARCAL1 gene, confirming a diagnosis of Schimke immuno-osseous dysplasia. | Blood, FTA Card, or Extracted DNA | 3-4 Weeks | 2,800.00 AED | Details |
| TAT Gene Tyrosinemia Type 2 (NGS) Genetic Test TEST-5821 LOINC 92643-2 | This test identifies pathogenic variants within the TAT gene, confirming or excluding a diagnosis of Tyrosinemia Type 2. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| TCN2 Gene (Transcobalamin II Deficiency) Genetic Test TEST-5839 LOINC 81247-9 | This genetic test identifies pathogenic variants in the TCN2 gene, which are responsible for Transcobalamin II deficiency. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| TP63 Gene Limb-Mammary Syndrome Genetic Test TEST-2651 LOINC 96613-9 | This genetic test analyzes the TP63 gene to detect mutations associated with limb-mammary syndrome and related disorders. | Peripheral whole blood (EDTA tube) | 3 to 4 weeks from sample receipt | 2,800.00 AED | Details |
| TPM2 Gene Arthrogryposis, Distal Type 1A Genetic Test TEST-5420 LOINC 21636-6 | This test identifies pathogenic mutations within the TPM2 gene associated with distal arthrogryposis type 1A. | Peripheral whole blood (EDTA tube) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| TRAF3 Gene Susceptibility Test (Herpes-Specific Acute Encephalopathy, Type 5) TEST-4318 LOINC 95053-1 | This test evaluates the TRAF3 gene for variants associated with susceptibility to herpes simplex-triggered acute encephalopathy. | Peripheral whole blood (EDTA) | 3–4 weeks | 2,800.00 AED | Details |
| TSFM Gene Combined Oxidative Phosphorylation Deficiency Type 3 Genetic Test TEST-6163 LOINC 7907-2 | This genetic test evaluates the TSFM gene for mutations associated with Combined Oxidative Phosphorylation Deficiency Type 3 (COXPD3). | Whole Blood (Peripheral) | 3-4 Weeks | 2,800.00 AED | Details |
| TTN Gene Myopathy, Early-Onset with Fatal Cardiomyopathy Genetic Test TEST-5347 LOINC 95403-5 | This genetic test evaluates the entire TTN gene for pathogenic variants associated with early-onset myopathy and fatal cardiomyopathy. | Whole blood (peripheral blood) | 3–4 weeks | 2,800.00 AED | Details |
| UBE3A (15q11) Gene Angelman Syndrome Genetic Test TEST-3833 LOINC 61896-3 | This test evaluates the UBE3A gene for mutations, deletions, or imprinting defects associated with Angelman syndrome. | Whole blood (EDTA tube), extracted genomic DNA, or dried blood spot on an FTA card | 21–28 calendar days (3–4 weeks) | 2,800.00 AED | Details |
| VCP Gene Amyotrophic Lateral Sclerosis Type 14 Genetic Test TEST-3774 LOINC 97934-0 | This test identifies pathogenic variants in the VCP gene associated with autosomal dominant amyotrophic lateral sclerosis type 14. | Peripheral whole blood (EDTA) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| VPS33B Gene Analysis (Next-Generation Sequencing) for Arthrogryposis, Renal Dysfunction, and Cholestasis Type 1 (ARC Syndrome) Test TEST-5362 LOINC 82439-2 | This diagnostic test evaluates the VPS33B gene for mutations associated with Arthrogryposis, Renal dysfunction, and Cholestasis type 1 (ARC syndrome). | Whole blood (peripheral), extracted DNA, or dried blood spot on FTA card | 3 to 4 weeks | 2,800.00 AED | Details |
| WDPCP Gene Bardet‑Biedl Syndrome Type 15 Genetic Test TEST-3906 LOINC 21612-7 | This test evaluates the WDPCP gene for mutations associated with Bardet‑Biedl syndrome type 15. | Peripheral whole blood (EDTA) or buccal swab; FTA card acceptable for neonates | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| Williams Syndrome (Karyotyping + FISH) Test TEST-1054 LOINC 45079-5 | This test detects the specific microdeletion on chromosome 7 associated with Williams syndrome using both karyotyping and FISH. | Peripheral whole blood (EDTA & heparin tubes) | 7–10 days | 1,100.00 AED | Details |
Clinical overview
About Genetic Disorders
Understanding your family's risk for specific hereditary conditions empowers you to make proactive, highly informed health and reproductive decisions. As a core pillar of our advanced Genetics department, comprehensive testing for Genetic Disorders evaluates your DNA for a curated selection of mutations known to cause distinct, multi-system hereditary conditions. Utilizing state-of-the-art sequencing technology, this empowering molecular screening provides the critical clarity needed to assess carrier status and diagnostic risks, safely guiding informed family planning, proactive medical interventions, and specialized reproductive counseling. Widely respected for compassionate diagnostic excellence among premier diagnostic labs in Dubai and the UAE, DNA Labs ensures strict patient confidentiality, uncompromising analytical accuracy, and rapid, dependable reporting. Safeguard your family’s future—book your genetic disorders testing in UAE, arrange a comfortable clinic or home sample collection, or connect with our specialized medical team.
Before your appointment
Preparation & sample collection
Follow the instructions you are given
Fasting, timing and medicine restrictions differ between investigations. The instructions for your specific request are confirmed when you book.
Bring your identification
A valid photo ID is required at collection so that your sample is matched correctly to your record.
Tell us about medicines
Prescription medicines, supplements and recent procedures can affect how an investigation is scheduled or interpreted — please mention them.
Ask before collection
If anything about preparation is unclear, contact us before your appointment. Preparation errors can affect reporting times.
Patient information
Frequently asked questions
Practical answers about Genetic Disorders testing at DNA Labs UAE. This information is general and does not replace advice from your treating clinician.
How do I choose the right Genetic Disorders test?
The correct investigation depends on what your clinician is trying to establish. Review the specimen type and turnaround time below, then confirm the choice with your treating doctor before booking.
What specimen is required?
Specimen requirements are listed for each investigation. If a request involves more than one sample type, our team will confirm what is needed at the time of booking.
Do you offer home sample collection in Dubai and the UAE?
Yes. Home collection can be arranged across Dubai and the wider UAE. Availability and appointment windows vary by location, so please confirm when you book.
How long do results take?
Turnaround depends on the investigation and the method used. The expected reporting time is confirmed with you before collection.
Is there anything I need to do before sample collection?
Some investigations require fasting, a specific collection time, or avoiding certain medicines or activities. Preparation details are shared when you book — please follow them and ask if anything is unclear.
How will I receive my report?
Reports are issued as secure digital documents and can be shared with your referring clinician on request. Please review results with a qualified clinician who can interpret them in context.
About this clinical information
The information on this Genetic Disorders page describes laboratory investigations in general terms. It is written to help you understand what an investigation involves — it is not a diagnosis and it is not a substitute for advice from your treating clinician.
- Investigation names, specimen types and listed prices are reviewed against laboratory records.
- Preparation guidance is indicative — confirm test-specific instructions before collection.
- Content is updated when investigations, methods or reporting formats change.
- Results are released to the patient and, on request, shared with the referring clinician.
Medical disclaimer: This page is for general information and education only. It is not medical advice, diagnosis or treatment, and it does not replace a consultation with a qualified healthcare professional. Always seek the advice of your doctor or another qualified provider with any questions about a medical condition or before ordering a test.
We're here to help
Need help choosing a Genetic Disorders test?
Tell us what your clinician has requested and we'll confirm availability, price, preparation and the most convenient collection option — including home collection in Dubai and across the UAE.
- Home collection available across the UAE
- Digital reports delivered securely
- Confidential handling of every request
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