Genetics
Single Gene Disorder Tests in Dubai & UAE
Investigations in this area, with the specimen type, turnaround time and listed price for each option — so you and your clinician can compare before you book.
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Single Gene Disorder investigations
All 72 investigations in this category are listed below.
| Test | What it measures | Specimen | Turnaround | Price | Book |
|---|---|---|---|---|---|
| ABCB4 Gene Gallbladder Disease Type 1 Genetic Test TEST-6319 LOINC 55233-5 | This test identifies pathogenic mutations in the ABCB4 gene associated with low phospholipid-associated cholelithiasis (LPAC) syndrome. | Peripheral Whole Blood | 3 – 4 Weeks | 2,800.00 AED | Details |
| ABCC9 Gene Cantú Syndrome Genetic Test TEST-3008 LOINC 48004-6 | This genetic test evaluates the ABCC9 gene for pathogenic variants associated with Cantú syndrome. | Peripheral whole blood | 3 to 4 Weeks | 2,800.00 AED | Details |
| ABHD1 Gene Lung Alpha-Beta Hydrolase Deficiency Type 1 Genetic Test TEST-6056 LOINC 55233-1 | This genetic test identifies pathogenic variants in the ABHD1 gene associated with lung alpha-beta hydrolase deficiency type 1. | Peripheral whole blood (4 mL EDTA) | 21–28 calendar days (expedited 14-day option available) | 2,800.00 AED | Details |
| ABHD5 Gene Chanarin-Dorfman Syndrome Genetic Test TEST-6189 LOINC 81290-9 | This test analyzes the ABHD5 gene to identify mutations causing Chanarin-Dorfman syndrome, a rare inherited metabolic disorder. | Peripheral Whole Blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| ADAMTSL2 Gene Geleophysic Dysplasia Type 1 Genetic Test TEST-5094 LOINC 91854-6 | This genetic test analyzes the ADAMTSL2 gene to identify pathogenic variants associated with Geleophysic Dysplasia Type 1. | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| ALAS2 Gene Protoporphyria, Erythropoietic, X-linked Genetic Test TEST-3213 LOINC 21663-2 | This genetic test evaluates the ALAS2 gene for mutations associated with X-linked erythropoietic protoporphyria (XLEPP) and X-linked sideroblastic ane... | Whole Blood (EDTA) or DNA Sample (FTA card or extracted DNA) | 3–4 Weeks | 2,800.00 AED | Details |
| ALG13 Gene Glycosylation Disorder Type 1S Genetic Test TEST-6293 LOINC 92651-7 | This test identifies pathogenic variants within the ALG13 gene associated with Congenital Disorder of Glycosylation Type 1S (CDG-1S). | Whole Blood (EDTA), Extracted DNA, or One‑Drop Blood on FTA Card | 3 to 4 Weeks (including confirmatory analysis) | 2,800.00 AED | Details |
| ALG3‑Congenital Disorder of Glycosylation Type Id (CDG‑Id) Genetic Test TEST-6318 LOINC 77637-8 | This test detects pathogenic variants in the ALG3 gene associated with Congenital Disorder of Glycosylation Type Id (CDG-Id). | Whole Blood (EDTA) or FTA Card Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| ALS2 Gene Spastic Paralysis, Infantile Onset Ascending NGS Test TEST-5617 LOINC 81261-5 | This test identifies pathogenic variants in the ALS2 gene associated with infantile-onset ascending spastic paralysis. | Blood (Whole Blood EDTA), Dried Blood Spot (DBS), Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| ANKH Gene Chondrocalcinosis Type 2 Genetic Test TEST-5291 LOINC 21636-6 | This test evaluates the ANKH gene for pathogenic variants associated with familial calcium pyrophosphate deposition disease (CPPD), also known as chon... | Whole Blood, Extracted DNA, or FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| ARHGEF6 Gene (X-Linked Intellectual Disability Type 46) Genetic Test TEST-4930 LOINC 50390-2 | This test analyzes the ARHGEF6 gene for variants associated with X-linked Intellectual Disability Type 46. | Peripheral whole blood | 3 to 4 Weeks | 2,800.00 AED | Details |
| ATP1B4 Gene Genetic Test (Autism Spectrum Disorder) TEST-3882 LOINC 94219-7 | This test detects pathogenic variants in the ATP1B4 gene associated with autism spectrum disorder. | Peripheral whole blood (3–5 mL in EDTA tube); also accepts extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| ATP8B1 Gene Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1) Genetic Test TEST-6199 LOINC 21638-4 | This genetic test evaluates the ATP8B1 gene for pathogenic variants associated with Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1). It h... | Peripheral blood, dried blood spot (FTA card), or extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| B4GALT1 Gene Glycosylation Disorder Type 2D (CDG-IId) Genetic Test TEST-6341 LOINC 83886-6 | This genetic test analyzes the B4GALT1 gene to identify pathogenic variants associated with Congenital Disorder of Glycosylation Type IId (CDG-IId). I... | Whole blood (EDTA), extracted genomic DNA, or FTA card dried blood spot | 3–4 weeks | 2,800.00 AED | Details |
| BICC1 Gene Renal Cystic Dysplasia Susceptibility Test TEST-3503 LOINC 21626-0 | This test identifies pathogenic variants in the BICC1 gene associated with renal cystic dysplasia susceptibility. | Peripheral Whole Blood (EDTA Tube) | 3–4 Weeks | 2,800.00 AED | Details |
| C12orf57 Gene Temtamy Syndrome Genetic Test TEST-2243 LOINC 94222-3 | This test analyzes the C12orf57 gene to identify mutations associated with Temtamy syndrome. | Peripheral Whole Blood (EDTA) or FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| CENPJ Gene Seckel Syndrome Type 4 Genetic Test TEST-2353 LOINC 95209-3 | This test identifies pathogenic variants in the CENPJ gene associated with Seckel syndrome type 4. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| CLDN16 Gene Hypomagnesemia Type 3 Genetic Test TEST-6119 LOINC 94838-1 | This test identifies genetic mutations in the CLDN16 gene associated with familial hypomagnesemia type 3. | Whole Blood, Extracted DNA, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| COA8 Gene Genetic Test for Mitochondrial Complex IV Deficiency TEST-5169 LOINC 96519-4 | This test evaluates the COA8 gene for pathogenic variants associated with mitochondrial complex IV deficiency. | Peripheral Whole Blood or FTA Card Spot | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| COL2A1 Gene Sequencing for Spondyloepiphyseal Dysplasia Congenita (SED Congenita) Test TEST-2345 LOINC 82321-5 | This test analyzes the entire coding sequence of the COL2A1 gene to identify pathogenic variants associated with Spondyloepiphyseal Dysplasia Congenit... | Peripheral blood, extracted DNA, or FTA card (dried blood spot) | 3 to 4 weeks (guaranteed maximum 4 weeks) | 2,800.00 AED | Details |
| COL6A2 Myosclerosis, Autosomal Recessive Genetic Test TEST-5275 LOINC 69457-1 | This test evaluates the COL6A2 gene for pathogenic variants associated with autosomal recessive myosclerosis. | Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| CTSC Gene (Papillon-Lefèvre Syndrome) Genetic Test (NGS) TEST-4649 LOINC 94045-2 | This test evaluates the CTSC gene for pathogenic variants associated with Papillon-Lefèvre syndrome. | Peripheral Whole Blood, FTA Card Dried Blood Spot, or Extracted DNA | 3-4 Weeks | 2,800.00 AED | Details |
| CYB5R3 Gene Methemoglobinemia Type 1 Genetic Test TEST-3233 LOINC 47998-5 | This test identifies genetic variants in the CYB5R3 gene associated with congenital methemoglobinemia type 1. | Peripheral Whole Blood | 14–21 Business Days | 2,800.00 AED | Details |
| CYP2R1 Gene Rickets, Vitamin D 25-Hydroxylation-Deficient, Type 1B Genetic Test TEST-4578 LOINC 81247-9 | This test identifies genetic mutations in the CYP2R1 gene responsible for Vitamin D-Dependent Rickets Type 1B. | Peripheral whole blood (3–5 mL EDTA) or Dried Blood Spot on FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| DNAJC5 Gene Genetic Test for Neuronal Ceroid Lipofuscinosis Type 4 (CLN4) TEST-6083 LOINC 94400-8 | This test detects pathogenic variants in the DNAJC5 gene associated with autosomal dominant neuronal ceroid lipofuscinosis type 4 (CLN4). | Whole Blood (EDTA), Extracted DNA, or FTA Card (Dried Blood Spot) | 3–4 Weeks | 2,800.00 AED | Details |
| DYNC1H1 Gene (Spinal Muscular Atrophy, Lower Extremity-Predominant Type 1, Autosomal Dominant) Genetic Test TEST-5840 LOINC 23866-1 | This genetic test identifies pathogenic variants in the DYNC1H1 gene associated with autosomal dominant spinal muscular atrophy with lower extremity p... | Peripheral whole blood | 3–4 weeks (21–28 days) | 2,800.00 AED | Details |
| EVC Gene (Ellis-van Creveld Syndrome) Genetic Test TEST-2860 LOINC 81247-9 | This test analyzes the entire coding region of the EVC gene to detect mutations associated with Ellis-van Creveld syndrome. | Peripheral Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| EVC2 Gene (Ellis-van Creveld Syndrome) Genetic Test TEST-2858 LOINC 94056-6 | This genetic test identifies pathogenic variants in the EVC2 gene associated with Ellis-van Creveld syndrome. | Peripheral Whole Blood (EDTA) or Buccal Swab | 3–4 Weeks (complete clinical report) | 2,800.00 AED | Details |
| FGF3 Gene Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia Genetic Test TEST-5635 LOINC 21636-6 | This diagnostic test evaluates the FGF3 gene for pathogenic variants associated with LAMM syndrome. | Peripheral Whole Blood (EDTA tube or FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| FLNA Gene Melnick-Needles Syndrome Genetic Test TEST-4870 LOINC 94222-0 | This genetic test identifies pathogenic variants in the FLNA gene, providing a definitive molecular diagnosis for Melnick-Needles syndrome. | Peripheral Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| Genetic Test for NIN Gene Seckel Syndrome Type 7 (SCKL7) TEST-2336 LOINC 82307-8 | This diagnostic test evaluates the NIN gene for pathogenic variants associated with Seckel syndrome type 7 (SCKL7). | Whole Blood (Peripheral) | 3–4 Weeks (21–28 Days) | 2,800.00 AED | Details |
| GJB2 Gene (Knuckle Pads, Leukonychia, Sensorineural Hearing Loss) Genetic Test TEST-5604 LOINC 49929-6 | This test evaluates the GJB2 gene for mutations associated with hereditary sensorineural hearing loss, often accompanied by knuckle pads and leukonych... | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| GP9 Gene Bernard Soulier Syndrome, Type C Genetic Test TEST-4030 LOINC 21659-5 | This test identifies pathogenic variants in the GP9 gene associated with autosomal recessive Bernard-Soulier syndrome type C. | Whole Blood (EDTA) or extracted DNA; FTA card accepted | 3–4 weeks from sample arrival at our DHA-licensed laboratory in Dubai Healthcare City | 2,800.00 AED | Details |
| GPR143 Gene Ocular Albinism Type I (Nettleship-Falls) Genetic Test TEST-3484 LOINC 81321-2 | This genetic test evaluates the GPR143 gene for pathogenic variants associated with Ocular Albinism Type I (Nettleship-Falls). | Peripheral Whole Blood (EDTA) | 21–28 Business Days | 2,800.00 AED | Details |
| GRIP1 Gene (Fraser Syndrome) Genetic Test TEST-2834 LOINC 21634-2 | This genetic test analyzes the GRIP1 gene to detect mutations associated with Fraser syndrome, a rare autosomal recessive disorder. | Peripheral Whole Blood (EDTA) | 3 to 4 weeks | 2,800.00 AED | Details |
| HCN1 Gene (Early Infantile Epileptic Encephalopathy Type 24) Genetic Test TEST-4308 LOINC 82887-0 | This genetic test analyzes the HCN1 gene for variants associated with Early Infantile Epileptic Encephalopathy Type 24 (EIEE24). It detects pathogenic... | Whole blood (EDTA tube), extracted DNA (minimum 1 µg), or dried blood spot on an FTA card | 3 – 4 Weeks | 2,800.00 AED | Details |
| HOXA13 Gene Hand-Foot-Uterus Syndrome Genetic Test TEST-2794 LOINC 83134-7 | This genetic test analyzes the HOXA13 gene for pathogenic variants associated with Hand-Foot-Uterus Syndrome. | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | 3–4 Weeks (21–28 business days) | 2,800.00 AED | Details |
| HPRT1 Gene Lesch‑Nyhan Syndrome Genetic Test TEST-4671 LOINC 21633-5 | This test evaluates the HPRT1 gene for pathogenic variants associated with Lesch-Nyhan syndrome. | Blood / Dried Blood Spot (FTA card) / Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| INPP5E Gene Test (MORM / Joubert Syndrome) TEST-2596 LOINC 90368-8 | This test evaluates the INPP5E gene for pathogenic variants associated with MORM syndrome and Joubert syndrome. | Peripheral Whole Blood (DNA extracted) | 3–4 Weeks | 2,800.00 AED | Details |
| IRF8 Gene Immunodeficiency Type 32A, Mycobacteriosis, Autosomal Dominant Genetic Test TEST-4897 LOINC 21639-0 | This test evaluates the IRF8 gene for pathogenic autosomal dominant variants associated with immunodeficiency type 32A and susceptibility to mycobacte... | Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| IRF8 Gene Immunodeficiency Type 32B, Monocyte and Dendritic Cell Deficiency, Autosomal Recessive Genetic Test TEST-4913 LOINC 94745-0 | This genetic test identifies pathogenic variants in the IRF8 gene associated with autosomal recessive immunodeficiency type 32B. | Whole blood (EDTA), extracted DNA, or one drop blood on FTA card | 3 to 4 weeks | 2,800.00 AED | Details |
| KCNA1 Gene Episodic Ataxia Type 1 Genetic Test TEST-4452 LOINC 90672-3 | This genetic test identifies pathogenic variants within the KCNA1 gene, which are responsible for causing Episodic Ataxia Type 1. | Peripheral Whole Blood, FTA Card, or Extracted DNA | 3 – 4 Weeks | 2,800.00 AED | Details |
| LAMB3 Gene Sequencing for Junctional Epidermolysis Bullosa, Non‑Herlitz Type (NGS) Test TEST-5143 LOINC 101427-8 | This diagnostic test evaluates the LAMB3 gene for pathogenic variants associated with junctional epidermolysis bullosa non‑Herlitz type. | Whole Blood or Buccal Swab | 21-28 days | 2,800.00 AED | Details |
| LARP7 Gene Alazami Syndrome Genetic Test TEST-3117 LOINC 21636-6 | This genetic test identifies pathogenic variants in the LARP7 gene, which are causative for Alazami syndrome. | Peripheral whole blood (EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| LZTR1 Gene Noonan Syndrome Type 10 Genetic Test TEST-2511 LOINC 92655-1 | This genetic test evaluates the LZTR1 gene for pathogenic variants associated with Noonan syndrome type 10. | Whole blood, extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| MARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 25 (COXPD25) Genetic Test TEST-6159 LOINC 82304-5 | This genetic test identifies pathogenic variants in the MARS2 gene associated with Combined Oxidative Phosphorylation Deficiency Type 25 (COXPD25). | Whole blood (EDTA or FTA card), or extracted DNA | 3–4 Weeks (average 18 working days) | 2,800.00 AED | Details |
| MYH8 Gene Arthrogryposis, Distal, Type 7 Genetic Test TEST-5366 LOINC 91890-3 | This diagnostic test evaluates the MYH8 gene for pathogenic variants associated with distal arthrogryposis type 7. | Whole Blood or FTA Card Sample | 3 to 4 weeks | 2,800.00 AED | Details |
| NEXMIF Gene Genetic Test (X-linked Intellectual Disability, Non-Syndromic) TEST-5078 LOINC 94051-0 | This genetic test detects pathogenic variants in the NEXMIF gene associated with X-linked non-syndromic intellectual disability. | Peripheral whole blood (3–5 ml in EDTA tube) or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| NOD2 Gene Blau Syndrome Genetic Test TEST-3055 LOINC 77774-9 | This genetic test evaluates the NOD2 gene for pathogenic variants associated with Blau syndrome. | Whole blood (EDTA), extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| PLCB4 Gene Auriculocondylar Syndrome Type 2 Genetic Test TEST-3066 LOINC 81347-8 | This test identifies pathogenic variants in the PLCB4 gene to confirm a diagnosis of Auriculocondylar syndrome type 2. | Peripheral whole blood (EDTA), 2–5 mL; alternative: extracted DNA (≥1 μg) or buccal swab (with prior approval) | 3–4 Weeks | 2,800.00 AED | Details |
| PQBP1 Gene (Renpenning Syndrome) Next‑Generation Sequencing DNA Test TEST-5560 LOINC 103150-1 | This test identifies pathogenic variants within the coding region of the PQBP1 gene associated with Renpenning syndrome. | Peripheral whole blood (EDTA) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| PRPS1 Gene (Arts Syndrome) Genetic Test TEST-3841 LOINC 88552-8 | This genetic test analyzes the PRPS1 gene for mutations associated with Arts syndrome, an X-linked neurological disorder. | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| RAB3GAP1 Gene Genetic Test for Warburg Micro Syndrome Type 1 TEST-2191 LOINC 81317-7 | This test identifies pathogenic variants in the RAB3GAP1 gene, confirming a diagnosis of Warburg micro syndrome type 1. | Peripheral whole blood | 3–4 weeks | 2,800.00 AED | Details |
| RBM8A Gene Thrombocytopenia‑Absent Radius Syndrome Genetic Test TEST-3511 LOINC 21636-6 | This test detects pathogenic variants in the RBM8A gene to confirm Thrombocytopenia‑Absent Radius syndrome. | Peripheral Whole Blood or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| SATB2 Gene (Glass Syndrome) Genetic Test TEST-2816 LOINC 28446-7 | This test evaluates the SATB2 gene for mutations associated with Glass syndrome. | Whole Blood (3-5 mL K2-EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| SCARF2 Gene Van den Ende-Gupta Syndrome Genetic Test TEST-2217 LOINC 95149-3 | This test detects pathogenic variants in the SCARF2 gene associated with Van den Ende-Gupta syndrome. | Peripheral Whole Blood (3–5 mL in EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| SDHC Gene Pheochromocytoma Type 3 Genetic Test TEST-1933 LOINC 78059-5 | This test identifies germline mutations in the SDHC gene associated with hereditary paraganglioma‑pheochromocytoma syndrome type 3. | Peripheral whole blood (3–5 mL in EDTA tube) or saliva collection kit | 3–4 weeks | 2,800.00 AED | Details |
| SLC25A13 Gene Citrin Deficiency Genetic Test TEST-6115 LOINC 98514-5 | This genetic test identifies pathogenic variants in the SLC25A13 gene, confirming citrin deficiency. | Peripheral whole blood (3–5 mL in EDTA tube) or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| SLC2A1 Gene Paroxysmal Exercise‑Induced Dyskinesia with Epilepsy and/or Hemolytic Anemia Genetic Test TEST-5538 LOINC 21641-9 | This test evaluates the SLC2A1 gene for pathogenic variants associated with Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS). | Peripheral Whole Blood | 3–4 weeks | 2,800.00 AED | Details |
| SLC2A9 Gene Hypouricemia, Renal Type 2 Genetic Test TEST-3733 LOINC 82126-0 | This genetic test identifies mutations in the SLC2A9 gene associated with renal hypouricemia type 2. | Whole Blood (EDTA / Lithium Heparin), Extracted DNA, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| SRD5A3 Gene Congenital Disorder of Glycosylation, Type Iq Genetic Test TEST-6178 LOINC 61738-5 | This genetic test analyzes the SRD5A3 gene to detect pathogenic variants associated with Congenital Disorder of Glycosylation Type Iq. | Whole Blood (EDTA), Extracted DNA, or One Drop of Blood on FTA Card | 3-4 Weeks | 2,800.00 AED | Details |
| SUMO1 Gene Orofacial Cleft Type 10 Genetic Test TEST-2488 LOINC 81247-9 | This test evaluates the SUMO1 gene for pathogenic variants associated with orofacial cleft type 10. | Peripheral Whole Blood, FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| SUOX Gene Sulfite Oxidase Deficiency Genetic Test TEST-5869 LOINC 81247-0 | This test detects mutations in the SUOX gene associated with sulfite oxidase deficiency. | Whole Blood, DNA FTA Card, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| TCTN1 Gene Joubert Syndrome Type 13 Genetic Test TEST-4650 LOINC 21636-9 | This diagnostic test evaluates the TCTN1 gene for pathogenic variants associated with Joubert syndrome type 13. | Peripheral whole blood | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| TGM5 Gene (Peeling Skin Syndrome Type 2) Genetic Test TEST-4645 LOINC 82162-7 | This genetic test identifies pathogenic variants in the TGM5 gene to confirm a diagnosis of Peeling Skin Syndrome Type 2. | Peripheral Whole Blood | 21 – 28 Days | 2,800.00 AED | Details |
| TSPAN7 Gene Intellectual Developmental Disorder, X‑Linked Type 58 Genetic Test TEST-5042 LOINC 83329-9 | This genetic test identifies pathogenic variants, including point mutations and CNVs, within the TSPAN7 gene associated with X-linked intellectual dis... | Peripheral Whole Blood or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| UBR1 Gene Johanson‑Blizzard Syndrome Genetic Test TEST-3677 LOINC 21634-6 | This genetic test identifies pathogenic variants in the UBR1 gene associated with Johanson-Blizzard syndrome. | Peripheral blood or Buccal swab (FTA card) | 3 to 4 weeks | 2,800.00 AED | Details |
| UPB1 Gene Beta‑Ureidopropionase Deficiency Genetic Test TEST-6127 LOINC 82324-2 | This genetic test identifies pathogenic variants in the UPB1 gene, which are responsible for beta‑ureidopropionase deficiency, an inborn error of pyri... | Peripheral whole blood (3–5 mL in EDTA tube) or FTA card | 3–4 weeks (21–28 calendar days) | 2,800.00 AED | Details |
| VDR Gene Rickets, Vitamin D-Resistant, Type 2A Genetic Test TEST-4574 LOINC 93277-8 | This diagnostic test evaluates the entire coding region of the VDR gene for pathogenic variants associated with hereditary vitamin D-resistant rickets... | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| WNT3 Gene Tetra‑Amelia, Autosomal Recessive Genetic Test TEST-2251 LOINC 82903-4 | This test evaluates the WNT3 gene for pathogenic variants associated with tetra‑amelia syndrome. | Peripheral whole blood (EDTA) or extracted genomic DNA | 3–4 weeks | 2,800.00 AED | Details |
| XYLT1 Gene Desbuquois Dysplasia Type 2 Genetic Test TEST-2881 LOINC 81260-5 | This test identifies genetic variants in the XYLT1 gene associated with Desbuquois dysplasia type 2. | Peripheral whole blood, FTA card dried blood spot, or previously extracted genomic DNA | 21–28 calendar days | 2,800.00 AED | Details |
| ZDHHC15 Gene X‑Linked Intellectual Disability Type 91 Genetic Test TEST-4949 LOINC 94847-3 | This diagnostic test evaluates the ZDHHC15 gene for pathogenic variants associated with X-linked intellectual disability type 91. | Whole blood (peripheral venipuncture) | 3–4 weeks | 2,800.00 AED | Details |
Clinical overview
About Single Gene Disorder
Finding the exact biological cause of a suspected genetic condition brings empowering clarity and a clear path to targeted relief and long-term management. Representing an advanced subspecialty in our Molecular Genetics department, Single Gene Disorder testing utilizes cutting-edge diagnostic technology to pinpoint the exact inherited mutation responsible for a specific clinical presentation. By analyzing the targeted gene with extreme precision, this essential screening provides your healthcare provider with the definitive data needed to safely guide personalized medical oversight, genetic counseling, and proactive family planning. Consistently trusted by specialists across diagnostic labs in Dubai and the UAE, DNA Labs guarantees absolute patient confidentiality, exceptional analytical accuracy, and remarkably fast turnaround times. Take control of your diagnostic journey—book your single gene disorder testing in UAE, coordinate a seamless home sample collection, or consult our specialized genetics team today.
Before your appointment
Preparation & sample collection
Follow the instructions you are given
Fasting, timing and medicine restrictions differ between investigations. The instructions for your specific request are confirmed when you book.
Bring your identification
A valid photo ID is required at collection so that your sample is matched correctly to your record.
Tell us about medicines
Prescription medicines, supplements and recent procedures can affect how an investigation is scheduled or interpreted — please mention them.
Ask before collection
If anything about preparation is unclear, contact us before your appointment. Preparation errors can affect reporting times.
Patient information
Frequently asked questions
Practical answers about Single Gene Disorder 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 Disorder 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 Disorder 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.
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