Genetics
Single Gene 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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Single Gene Disorders investigations
All 133 investigations in this category are listed below.
| Test | What it measures | Specimen | Turnaround | Price | Book |
|---|---|---|---|---|---|
| Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test TEST-1876 LOINC 21669-6 | This test analyzes the entire FGFR3 gene sequence to detect mutations associated with achondroplasia and related skeletal dysplasias. | Amniotic Fluid, Chorionic Villi, or Cord Blood | 14–21 business days | 4,000.00 AED | Details |
| ADNP Gene Helsmoortel-van der Aa Syndrome Genetic Test TEST-2796 LOINC 81305-5 | This genetic test identifies pathogenic variants in the ADNP gene, confirming Helsmoortel-van der Aa syndrome. | Whole blood (EDTA) or DNA FTA card | 3–4 weeks | 2,800.00 AED | Details |
| ANTXR2 Gene Hyaline Fibromatosis Syndrome Genetic Test TEST-5043 LOINC 98059-9 | This genetic test evaluates the ANTXR2 gene for mutations causing hyaline fibromatosis syndrome. | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| AP4M1 Gene Microcephaly Genetic Test TEST-2566 LOINC 94233-2 | This test identifies pathogenic variants in the AP4M1 gene associated with autosomal recessive microcephaly. | Peripheral Blood (FTA Card or Venous Draw) | 3–4 Weeks | 2,800.00 AED | Details |
| ATN1 Gene Dentatorubral-Pallidoluysian Atrophy (DRPLA) Genetic Test TEST-4202 LOINC 81247-9 | This test detects abnormal CAG repeat expansions within the ATN1 gene, confirming a diagnosis of Dentatorubral-Pallidoluysian Atrophy (DRPLA). | Whole blood (EDTA), extracted DNA, or FTA card (dried blood spot) | 3–4 weeks | 2,800.00 AED | Details |
| AUH Gene 3-Methylglutaconic Aciduria Type 1 Genetic Test TEST-5928 LOINC 82153-2 | This genetic test identifies pathogenic variants in the AUH gene associated with 3-methylglutaconic aciduria type 1. | Peripheral whole blood (EDTA) or FTA card | 3 to 4 weeks | 2,800.00 AED | Details |
| BCAP31 Gene Test (X‑Linked Deafness, Dystonia, and Cerebral Hypomyelination) TEST-5577 LOINC 81247-9 | This diagnostic test evaluates the BCAP31 gene for pathogenic variants associated with X-linked deafness-dystonia-cerebral hypomyelination syndrome. | Whole Blood, Cheek Swab, or Dried Blood Spot | 3–4 weeks | 2,800.00 AED | Details |
| BCS1L Gene (Björnstad Syndrome) Genetic Test TEST-3034 LOINC 55233-1 | This test identifies pathogenic variants within the BCS1L gene, confirming a diagnosis of Björnstad syndrome. | Peripheral whole blood (EDTA) or FTA card | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| CD40 Gene Immunodeficiency Type 3 (Hyper-IgM Syndrome) Test TEST-4917 LOINC 94497-8 | This genetic test evaluates the CD40 gene for variants associated with Hyper-IgM syndrome type 3, a primary immunodeficiency. | Peripheral Whole Blood (EDTA tube) or FTA Card Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| CDC73 Gene (Hyperparathyroidism‑Jaw Tumor Syndrome) NGS Test TEST-3787 LOINC 82128-6 | This test evaluates for germline mutations within the CDC73 gene, associated with Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT). It identifies genet... | Peripheral whole blood, serum, or plasma | 3–4 Weeks | 2,800.00 AED | Details |
| CDT1 Gene Meier‑Gorlin Syndrome Type 4 Genetic Test TEST-2594 LOINC 81225-0 | This genetic test identifies pathogenic variants in the CDT1 gene, confirming Meier‑Gorlin syndrome type 4. | Whole blood (EDTA, 1–2 mL) or FTA card | 3 – 4 weeks | 2,800.00 AED | Details |
| CEP152 Gene Microcephaly (Autosomal Recessive Type 9) Genetic Test TEST-2552 LOINC 21636-6 | This genetic test identifies pathogenic variants in the CEP152 gene associated with autosomal recessive primary microcephaly type 9. | Whole blood (3–5 mL in EDTA tube), DNA FTA card, or extracted DNA | 3 to 4 weeks | 2,800.00 AED | Details |
| CEP57 Gene Analysis for Mosaic Variegated Aneuploidy Syndrome Type 2 (MVA2) Test TEST-2532 LOINC 94473-2 | This diagnostic test evaluates the CEP57 gene for pathogenic variants associated with Mosaic Variegated Aneuploidy Syndrome Type 2 (MVA2). | Peripheral Whole Blood (EDTA), Extracted Genomic DNA, or FTA Card Blood Spot | 21–28 Days (3–4 Weeks) | 2,800.00 AED | Details |
| CHRND Gene Congenital Myasthenic Syndrome Type 3A (Slow Channel) Genetic Test TEST-5307 LOINC 94824-3 | This test identifies pathogenic variants in the CHRND gene associated with Congenital Myasthenic Syndrome Type 3A (Slow Channel). | Peripheral whole blood (via VIP Mobile Phlebotomy) or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| CHST3 Gene DNA Test for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (NGS) TEST-4554 LOINC 50397-9 | This test evaluates the CHST3 gene for pathogenic variants associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations. | Peripheral blood (2-5 ml in EDTA) or buccal swab / DNA extraction from blood or saliva | 3 to 4 Weeks | 2,800.00 AED | Details |
| CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome Genetic Test TEST-2255 LOINC 94086-3 | This test analyzes the CHSY1 gene to detect mutations associated with Temtamy preaxial brachydactyly syndrome (TPBS). It uses Next-Generation Sequenci... | Peripheral whole blood, extracted DNA, or FTA card | 3–4 Weeks from sample receipt | 2,800.00 AED | Details |
| CLCN5 Gene Dent Disease Genetic Test TEST-3525 LOINC 93935-7 | This test identifies pathogenic variants in the CLCN5 gene associated with Dent disease, an X-linked renal tubular disorder. | Whole Blood (Peripheral), FTA Card, or One-Drop Blood Sample | 3 to 4 Weeks | 2,800.00 AED | Details |
| COG7 Gene Glycosylation Disorder Type 2E Genetic Test TEST-4548 LOINC 91867-5 | This test evaluates the COG7 gene for pathogenic variants associated with Congenital Disorder of Glycosylation Type 2E (COG7-CDG). It utilizes Next-Ge... | Peripheral whole blood (EDTA) | 3–4 Weeks | 2,800.00 AED | Details |
| COL11A1 Gene Marshall Syndrome Genetic Test TEST-5548 LOINC 81260-5 | This genetic test analyzes the COL11A1 gene to detect mutations associated with Marshall syndrome. | Whole blood (peripheral venous) | 3 to 4 weeks | 2,800.00 AED | Details |
| COL2A1 Gene Genetic Test for Multiple Epiphyseal Dysplasia with Myopia and Deafness TEST-2856 LOINC 83245-8 | This test evaluates the COL2A1 gene for pathogenic variants associated with multiple epiphyseal dysplasia, myopia, and deafness. | Peripheral whole blood (Lavender top EDTA tube) or buccal swab | 3 – 4 weeks | 2,800.00 AED | Details |
| COL2A1 Gene Kniest Dysplasia Genetic Test TEST-2664 LOINC 101356-6 | This genetic test evaluates the COL2A1 gene for pathogenic variants associated with Kniest dysplasia and other type II collagenopathies. | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| COQ9 Gene Coenzyme Q10 Deficiency Type 5 Genetic Test TEST-4131 LOINC 94567-7 | This test evaluates the COQ9 gene for mutations associated with primary coenzyme Q10 deficiency type 5. | Peripheral Whole Blood (EDTA) or Dried Blood Spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| CPT2 Gene (Carnitine Palmitoyltransferase 2 Deficiency) Infantile Genetic Test TEST-6162 LOINC 82184-2 | This test evaluates the CPT2 gene for pathogenic variants associated with Carnitine Palmitoyltransferase 2 Deficiency. | Peripheral Whole Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| CUL7 Gene (Three M Syndrome Type 1) Genetic Test TEST-2239 LOINC 94219-1 | This test identifies pathogenic variants in the CUL7 gene, confirming a diagnosis of Three M syndrome type 1. | Whole blood (EDTA), extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| DCDC2 Gene Nephronophthisis Type 19 Genetic Test TEST-3610 LOINC 101387-5 | This test detects pathogenic mutations in the DCDC2 gene, which are associated with autosomal recessive nephronophthisis type 19. | Whole blood (EDTA tube), extracted DNA, or dried blood spot (FTA card) | 3 to 4 weeks | 2,800.00 AED | Details |
| DHODH Gene Postaxial Acrofacial Dysostosis Genetic Test TEST-2398 LOINC 81260-5 | This genetic test evaluates the DHODH gene for mutations associated with postaxial acrofacial dysostosis (Miller syndrome). It identifies pathogenic v... | Peripheral Whole Blood or FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| DLL3 Gene Test TEST-4565 LOINC 81247-9 | This test identifies pathogenic variants in the DLL3 gene associated with autosomal recessive spondylocostal dysostosis type 1. | Peripheral Whole Blood (EDTA tube, 5–10 mL) | 3–4 Weeks | 2,800.00 AED | Details |
| DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test TEST-2847 LOINC 21636-6 | This genetic test analyzes the DOK7 gene for pathogenic variants associated with fetal akinesia deformation sequence (FADS) and congenital myasthenic... | Peripheral whole blood or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| ECE1 Gene Hirschsprung Disease Genetic Test TEST-2777 LOINC 91853-6 | This test identifies pathogenic variants in the ECE1 gene associated with Hirschsprung disease. | Peripheral Whole Blood or Buccal Swab | 3 to 4 weeks | 2,800.00 AED | Details |
| ELN Gene Cutis Laxa, Autosomal Dominant Genetic Test TEST-5265 LOINC 94093-8 | This genetic test identifies pathogenic variants in the ELN gene associated with autosomal dominant cutis laxa. | Peripheral Whole Blood (3-5 mL in EDTA tube) | 3–4 Weeks | 2,800.00 AED | Details |
| EP300 Gene Rubinstein-Taybi Syndrome Genetic Test TEST-2368 LOINC 21649-3 | This test identifies pathogenic variants within the EP300 gene, confirming a diagnosis of Rubinstein-Taybi syndrome. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| EPB41L1 Gene-Related Autosomal Dominant Intellectual Disability Type 11 (MRD11) Genetic Test TEST-4901 LOINC 21636-6 | This genetic test identifies mutations in the EPB41L1 gene associated with Autosomal Dominant Intellectual Disability Type 11 (MRD11). It analyzes the... | Peripheral Whole Blood (EDTA) | 21–28 Business Days | 2,800.00 AED | Details |
| ERCC2 Gene Xeroderma Pigmentosum, Group D Genetic Test TEST-4482 LOINC 92822-6 | This test identifies pathogenic variants in the ERCC2 gene associated with Xeroderma pigmentosum group D. | Peripheral whole blood (2 mL EDTA), extracted DNA (min 1 µg), or FTA card | 3 to 4 weeks | 2,800.00 AED | Details |
| ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 Genetic Test TEST-2986 LOINC 82989-0 | This test identifies pathogenic variants in the ERCC6 gene to diagnose Cerebrooculofacioskeletal Syndrome type 1 (COFS1). | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| FKRP Gene Limb‑Girdle Muscular Dystrophy, Autosomal Recessive Type 2I Genetic Test TEST-4736 LOINC 98116-2 | This genetic test analyzes the FKRP gene to identify mutations causing Limb-Girdle Muscular Dystrophy Type 2I. | Peripheral Whole Blood or Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| FLNA Gene Otopaladigital Syndrome Type 2 Genetic Test TEST-5540 LOINC 55233-1 | This test identifies pathogenic variants within the FLNA gene associated with Otopaladigital syndrome type 2. | Peripheral whole blood | 3 to 4 Weeks | 2,800.00 AED | Details |
| FLNB Gene Atelosteogenesis Type 3 Next-Generation Sequencing (NGS) Genetic Test TEST-5352 LOINC 54236-7 | This test detects pathogenic variants in the FLNB gene associated with autosomal dominant atelosteogenesis type 3. | Whole blood (EDTA), genomic DNA (≥1 μg), or FTA card | 14–21 working days | 2,800.00 AED | Details |
| FOXF2 Gene Genetic Test for Disorders of Sex Development with Cleft Palate TEST-3460 LOINC 62374-4 | This test evaluates the FOXF2 gene for pathogenic variants associated with disorders of sex development and cleft palate. | Peripheral blood or dried blood spot | 3–4 Weeks | 2,800.00 AED | Details |
| FOXP3 Gene Immunodysregulation, Polyendocrinopathy, and Enteropathy, X‑Linked Genetic Test TEST-4872 LOINC 98979-9 | This genetic test analyzes the FOXP3 gene to identify pathogenic variants associated with X-linked Immunodysregulation, Polyendocrinopathy, and Entero... | Peripheral Whole Blood (EDTA tube), Extracted Genomic DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| FRAS1 Gene (Fraser Syndrome) Genetic Test TEST-2838 LOINC 85403-8 | This test evaluates the FRAS1 gene for pathogenic variants associated with Fraser syndrome. | Whole Blood (EDTA) or Dried Blood Spot (FTA card) | 21–28 business days | 2,800.00 AED | Details |
| FUCA1 Gene Fucosidosis Genetic Test TEST-6385 LOINC 69047-9 | This genetic test analyzes the FUCA1 gene to identify mutations associated with fucosidosis, a rare lysosomal storage disorder. | Peripheral whole blood, FTA card dried blood spot, or extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| FXYD2 Gene Hypomagnesemia Type 2 Genetic Test TEST-6176 LOINC 104020-1 | This test evaluates the FXYD2 gene for mutations associated with autosomal dominant renal hypomagnesemia type 2. | Whole Blood (EDTA) / DNA FTA Card / Extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| G6PC Gene (Von Gierke Disease) Genetic Test TEST-5759 LOINC 81265-6 | This test evaluates the G6PC gene for pathogenic variants associated with Glycogen Storage Disease Type Ia (Von Gierke disease). It identifies mutatio... | Whole Blood (EDTA), Buccal Swab, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| Galactosialidosis Genetic Test (CTSA Gene Sequencing) TEST-6391 LOINC 97370-3 | This test evaluates the CTSA gene for pathogenic variants associated with galactosialidosis. | Whole blood (EDTA), extracted DNA, or DNA FTA card | 3–4 weeks | 2,800.00 AED | Details |
| GCSH Gene Glycine Encephalopathy Genetic Test TEST-4529 LOINC 82325-9 | This test detects pathogenic variants in the GCSH gene, providing a molecular diagnosis for nonketotic hyperglycinemia (NKH). | Peripheral whole blood (EDTA) | 3–4 weeks | 2,800.00 AED | Details |
| GLI3 Gene Greig Cephalopolysyndactyly Syndrome Genetic Test TEST-2806 LOINC 95236-8 | This genetic test evaluates the GLI3 gene for pathogenic variants associated with Greig cephalopolysyndactyly syndrome. | Blood (EDTA), Extracted DNA, or FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| GNAS Gene Progressive Osseous Heteroplasia (POH) Genetic Test TEST-4727 LOINC 81660-2 | This test detects pathogenic variants in the GNAS gene associated with Progressive Osseous Heteroplasia (POH). | Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| GP1BB Gene Bernard-Soulier Syndrome Type B Genetic Test TEST-4069 LOINC 21636-6 | This genetic test evaluates the GP1BB gene for pathogenic variants associated with Bernard-Soulier syndrome type B. | Peripheral Whole Blood or Buccal Swab | 3–4 weeks | 2,800.00 AED | Details |
| HDAC4 Gene Mutation Analysis for Brachydactyly-Mental Retardation Syndrome (NGS) Test TEST-3037 LOINC 55233-1 | This test identifies pathogenic variants within the HDAC4 gene associated with Brachydactyly-Mental Retardation Syndrome (BDMR). It utilizes Next-Gene... | Whole blood, DNA FTA card, or extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| HEXA Gene Tay-Sachs Disease Genetic Test TEST-5852 LOINC 81261-3 | This test evaluates the HEXA gene for mutations associated with Tay-Sachs disease and carrier status. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| HIBCH Gene 3‑Hydroxyisobutyryl‑CoA Hydrolase Deficiency Genetic Test TEST-6022 LOINC 82939-0 | This genetic test identifies pathogenic variants in the HIBCH gene, confirming a diagnosis of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency. | Peripheral whole blood, extracted DNA, FTA card (buccal swab accepted) | 3–4 weeks | 2,800.00 AED | Details |
| HOGA1 Gene Hyperoxaluria Type 3 Genetic Test TEST-6214 LOINC 94735-4 | This test evaluates the HOGA1 gene for pathogenic variants associated with primary hyperoxaluria type 3. | Whole blood | 14–21 business days (3–4 weeks) | 2,800.00 AED | Details |
| HOXA1 Gene Genetic Test for Athabaskan Brainstem Dysgenesis Syndrome TEST-3103 LOINC 97570-2 | This test evaluates the entire coding region of the HOXA1 gene for pathogenic variants associated with Athabaskan brainstem dysgenesis syndrome. | Whole Blood (EDTA) or Extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| HOXD13 Gene Brachydactyly Type E1 Genetic Test TEST-3019 LOINC 82349-0 | This test detects pathogenic variants in the HOXD13 gene, the definitive molecular cause of brachydactyly type E1. | Peripheral Whole Blood (3 mL EDTA) or FTA Card Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| HOXD13-Related Brachydactyly-Syndactyly Syndrome Genetic Test TEST-3017 LOINC 90553-1 | This test analyzes the HOXD13 gene to identify pathogenic mutations associated with Brachydactyly-Syndactyly Syndrome. | Peripheral Whole Blood (2 mL EDTA) or FTA Card (infant heel stick) | 3 to 4 Weeks | 2,800.00 AED | Details |
| HSD17B3 Gene Pseudohermaphroditism with Gynecomastia Genetic Test TEST-5853 LOINC 94219-6 | This genetic test evaluates the HSD17B3 gene for mutations causing 46,XY disorder of sex development. | Peripheral Blood (EDTA) or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| IDUA Gene Hurler‑Scheie Syndrome Genetic Test TEST-6279 LOINC 92846-6 | This test sequences the entire IDUA gene to detect pathogenic variants associated with Hurler‑Scheie syndrome (MPS I). It identifies mutations respons... | Whole Blood (Peripheral) – 3 mL in EDTA tube | 3–4 Weeks (21–28 Business Days) | 2,800.00 AED | Details |
| IGF1R Gene Insulin-Like Growth Factor Resistance Genetic Test TEST-6149 LOINC 21636-6 | This genetic test evaluates the IGF1R gene for pathogenic variants associated with insulin-like growth factor-1 resistance. | Peripheral Whole Blood | 3–4 weeks | 2,800.00 AED | Details |
| IQSEC2 Gene X-Linked Intellectual Disability Type 1 (XLID) Genetic Test TEST-5005 LOINC 94490-0 | This genetic test analyzes the IQSEC2 gene to identify variants associated with X-Linked Intellectual Disability Type 1. | Peripheral whole blood (EDTA) or buccal swab | 3–4 weeks | 2,800.00 AED | Details |
| JAG1 Gene Alagille Syndrome Type 1 Genetic Test TEST-3121 LOINC 81301-2 | This test evaluates the JAG1 gene for pathogenic variants associated with Alagille syndrome type 1. | Whole blood (EDTA tube), FTA card blood spot, or previously extracted genomic DNA | 3–4 weeks | 2,800.00 AED | Details |
| KLF1 Gene Congenital Dyserythropoietic Anaemia Type 4 (CDA IV) Genetic Test TEST-3298 LOINC 101606-2 | This genetic test identifies mutations within the KLF1 gene, confirming a diagnosis of Congenital Dyserythropoietic Anaemia Type 4 (CDA IV). | Peripheral whole blood (EDTA), extracted DNA, or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| KRT85 Gene Analysis (Ectodermal Dysplasia Type 4, Hair/Nail Type) Test TEST-5187 LOINC 81247-7 | This test analyzes the KRT85 gene to identify pathogenic variants associated with Ectodermal Dysplasia Type 4, characterized by hair and nail abnormal... | Peripheral Whole Blood, Extracted DNA, or FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| LAMA1 Gene Poretti-Boltshauser Syndrome Genetic Test TEST-2417 LOINC 50546-8 | This genetic test evaluates the LAMA1 gene for pathogenic variants associated with Poretti-Boltshauser syndrome. | Peripheral Blood or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| LCAT Gene Deficiency Genetic Test TEST-6075 LOINC 50397-9 | This genetic test detects pathogenic mutations in the LCAT gene associated with LCAT deficiency. | Whole Blood or Buccal Swab | 3 to 4 Weeks | 2,800.00 AED | Details |
| LFNG Gene Spondylocostal Dysostosis, Autosomal Recessive Type 3 DNA Test TEST-4560 LOINC 81255-6 | This diagnostic test evaluates for pathogenic variants in the LFNG gene associated with autosomal recessive spondylocostal dysostosis type 3. | Whole Blood or Extracted DNA | 3 to 4 weeks | 2,800.00 AED | Details |
| LHX4 Gene Sequencing for Combined Pituitary Hormone Deficiency Type 4 (NGS) Test TEST-3590 LOINC 21636-6 | This test detects pathogenic variants in the LHX4 gene associated with Combined Pituitary Hormone Deficiency Type 4. | Peripheral Whole Blood, FTA Card Spot, or Extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| LMNA Gene Test for Emery-Dreifuss Muscular Dystrophy Type 2 (NGS) TEST-4296 LOINC 94487-8 | This diagnostic test evaluates the LMNA gene for pathogenic variants associated with Emery-Dreifuss Muscular Dystrophy type 2. | Whole blood (3 mL) or FTA card (dried blood spot) | 3–4 weeks | 2,800.00 AED | Details |
| LMX1B Gene Nail‑Patella Syndrome DNA Test TEST-4764 LOINC 82377-1 | This test detects pathogenic variants in the LMX1B gene, providing a molecular diagnosis for Nail-Patella Syndrome (NPS). | Whole Blood, FTA Card, or Buccal Swab | 3-4 Weeks | 2,800.00 AED | Details |
| LONP1 Gene Sequencing for CODAS Syndrome (NGS) Test TEST-2958 LOINC 21636-6 | This diagnostic test evaluates the LONP1 gene for mutations associated with CODAS syndrome. | Whole blood (EDTA) or FTA card dried blood spot | 3 – 4 Weeks | 2,800.00 AED | Details |
| MCCC2 Gene NGS Test for 3‑Methylcrotonyl‑CoA Carboxylase 2 Deficiency TEST-6026 LOINC 35128-8 | This test detects pathogenic variants in the MCCC2 gene to diagnose 3-methylcrotonyl-CoA carboxylase 2 deficiency. | Peripheral Blood (Whole Blood or FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| MED12 Gene Lujan-Fryns Syndrome Genetic Test TEST-2626 LOINC 51968-8 | This test evaluates the MED12 gene for pathogenic variants associated with Lujan-Fryns Syndrome. | Peripheral Whole Blood (EDTA) | 3-4 Weeks (21-28 Days) | 2,800.00 AED | Details |
| MLPH Gene Griscelli Syndrome Type 3 Genetic Test TEST-5071 LOINC 93852-3 | This test analyzes the MLPH gene to detect mutations associated with Griscelli syndrome type 3. | Peripheral Blood or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| MNX1 Gene Currarino Syndrome Genetic Test TEST-2896 LOINC 21639-0 | This diagnostic test evaluates the MNX1 gene for mutations associated with Currarino syndrome. | Whole Blood, Extracted DNA, or FTA Card Blood Spot | 3 to 4 Weeks | 2,800.00 AED | Details |
| MYH3 Gene Distal Arthrogryposis Type 2A Genetic Test TEST-5416 LOINC 55233-1 | This test confirms the genetic etiology of distal arthrogryposis type 2A (DA2A) by analyzing the MYH3 gene for pathogenic variants. | Peripheral Whole Blood, Extracted DNA, or FTA Card Blood Spot | 3-4 Weeks | 2,800.00 AED | Details |
| NANOS1 Gene Oligoasthenoteratozoospermia (OAT) Genetic Test TEST-3396 LOINC 21636-6 | This genetic test evaluates for pathogenic variants in the NANOS1 gene associated with severe male infertility (OAT). | Peripheral whole blood (EDTA) or dried blood spot on FTA card | 21 calendar days | 2,800.00 AED | Details |
| NBAS Gene Short Stature, Optic Nerve Atrophy, and Pelger‑Huet Anomaly Genetic Test TEST-2319 LOINC 81247-9 | This diagnostic test evaluates the NBAS gene for pathogenic variants associated with SOPH syndrome. | Peripheral whole blood (EDTA), buccal swab, or dried blood spot on an FTA card | 3–4 weeks | 2,800.00 AED | Details |
| NECTIN1 Gene Orofacial Cleft Type 7 Genetic Test TEST-2481 LOINC 95394-1 | This test identifies pathogenic variants in the NECTIN1 gene, associated with Orofacial Cleft Type 7. | Peripheral whole blood, extracted DNA, or dried blood spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| NNT Gene Glucocorticoid Deficiency Type 4 (with/without Mineralocorticoid Deficiency) Genetic Test TEST-3840 LOINC 92713-0 | This genetic test identifies pathogenic variants in the NNT gene associated with familial glucocorticoid deficiency type 4. | Peripheral Whole Blood (EDTA tube) | 3–4 weeks | 2,800.00 AED | Details |
| NPC2 Gene Niemann-Pick Disease Type C2 Genetic Test TEST-5909 LOINC 82298-6 | This genetic test evaluates the NPC2 gene for pathogenic variants associated with Niemann-Pick disease type C2. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| OBSL1 Gene (Three M Syndrome Type 2) Genetic Test TEST-2248 LOINC 81208-7 | This test identifies pathogenic variants in the OBSL1 gene associated with Three M syndrome type 2. | Peripheral whole blood or extracted DNA (FTA card accepted) | 3–4 weeks | 2,800.00 AED | Details |
| OCA2 Gene (Oculocutaneous Albinism Type 2) Genetic Test TEST-3490 LOINC 74899-0 | This test identifies pathogenic variants within the OCA2 gene, confirming a diagnosis of Oculocutaneous Albinism Type 2. | Whole Blood (EDTA tube), Extracted DNA (≥1 µg), or One Drop of Blood on FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| OSMR Gene (Primary Localized Cutaneous Amyloidosis Type 1) Genetic Test TEST-5424 LOINC 21636-8 | This genetic test evaluates the OSMR gene for mutations associated with primary localized cutaneous amyloidosis type 1. | Whole Blood (Peripheral) / Extracted DNA / Dried Blood Spots on FTA cards | 3–4 Weeks | 2,800.00 AED | Details |
| PEX13 Gene Zellweger Syndrome Genetic Test TEST-5878 LOINC 91855-5 | This test evaluates the PEX13 gene for mutations associated with Zellweger spectrum disorders. | Peripheral whole blood or FTA card | 3 to 4 Weeks | 2,800.00 AED | Details |
| PHF6 Gene Borjeson-Forssman-Lehmann Syndrome Genetic Test TEST-3965 LOINC 92788-5 | This test evaluates the PHF6 gene for pathogenic variants associated with Borjeson-Forssman-Lehmann syndrome (BFLS). It utilizes Next Generation Seque... | Peripheral whole blood (EDTA) – preferred; saliva (Oragene) accepted as alternative | 3–4 weeks | 2,800.00 AED | Details |
| PIGN Gene Sequencing (NGS) Test TEST-2529 LOINC 81793-9 | This test identifies pathogenic variants in the PIGN gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 1 (MCAHS1). | Whole blood, extracted DNA, or FTA card (dried blood spot) | 3–4 Weeks | 2,800.00 AED | Details |
| PIGO Gene Hyperphosphatasia with Mental Retardation Syndrome Type 2 (HPMRS2) Genetic Test TEST-2730 LOINC 81247-9 | This genetic test identifies mutations in the PIGO gene responsible for Hyperphosphatasia with Mental Retardation Syndrome Type 2 (Mabry syndrome). It... | Whole blood, extracted DNA, FTA card blood spot | 3 – 4 weeks | 2,800.00 AED | Details |
| PIK3R1 Gene SHORT Syndrome Genetic Test TEST-2329 LOINC 81266-9 | This test evaluates the PIK3R1 gene for variants associated with SHORT syndrome. | Whole Blood (EDTA) or Dried Blood Spot (FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| PLCB1 Gene Sequencing for Early Infantile Epileptic Encephalopathy Type 12 (EIEE12) Test TEST-4228 LOINC 95431-1 | This diagnostic test evaluates the PLCB1 gene for pathogenic variants associated with Early Infantile Epileptic Encephalopathy Type 12 (EIEE12). | Whole blood (EDTA), extracted genomic DNA, or dried blood spot (FTA card) | 3 to 4 weeks | 2,800.00 AED | Details |
| PMP22 Gene Roussy–Lévy Syndrome Genetic Test TEST-5657 LOINC 48018-6 | This genetic test evaluates the PMP22 gene for pathogenic variants associated with Roussy–Lévy syndrome. | Whole Blood (3 mL) | 3 – 4 Weeks | 2,800.00 AED | Details |
| PNP Gene Immunodeficiency Genetic Test TEST-4929 LOINC 101105-8 | This test identifies pathogenic variants in the PNP gene, confirming a diagnosis of Purine Nucleoside Phosphorylase deficiency. | Whole blood (EDTA), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| PNPO Gene Pyridoxamine 5'-Phosphate Oxidase Deficiency Genetic Test TEST-5916 LOINC 81248-8 | This genetic test identifies mutations in the PNPO gene, confirming pyridoxamine 5'-phosphate oxidase deficiency, a cause of treatable infantile epile... | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks (expedited available) | 2,800.00 AED | Details |
| POLG Gene Alpers Syndrome Genetic Test TEST-530 LOINC 81247-9 | This test identifies pathogenic variants in the POLG gene associated with Alpers syndrome. | Whole Blood (Peripheral) | 3–4 weeks | 2,800.00 AED | Details |
| POMP Gene Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Genetic Test TEST-4843 LOINC 21647-1 | This genetic test analyzes the POMP gene to identify pathogenic variants associated with Keratosis linearis with ichthyosis congenita and sclerosing k... | Peripheral Whole Blood or Dried Blood Spot (FTA Card) | 3-4 Weeks | 2,800.00 AED | Details |
| PPT1 Gene Ceroid Lipofuscinosis Neuronal Type 1 (CLN1) Genetic Test TEST-6171 LOINC 76771-7 | This test evaluates the PPT1 gene for pathogenic variants associated with Neuronal Ceroid Lipofuscinosis Type 1 (CLN1). It uses Next-Generation Sequen... | Peripheral Whole Blood (EDTA) | 3–4 weeks | 2,800.00 AED | Details |
| PSTPIP1 Gene (PAPA Syndrome) Genetic Test TEST-4616 LOINC 101039-1 | This genetic test identifies mutations in the PSTPIP1 gene associated with PAPA syndrome. | Whole Blood (EDTA), Dried Blood Spot (FTA card), or Pre-extracted DNA | 3 – 4 Weeks | 2,800.00 AED | Details |
| PURA Gene Genetic Test TEST-4935 LOINC 95932-6 | This test detects pathogenic variants in the PURA gene associated with PURA Syndrome (MRD31), a rare neurodevelopmental disorder. | Whole Blood / Extracted DNA / Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| RAB39B Gene X-Linked Intellectual Disability Type 72 NGS Test TEST-4938 LOINC 68976-8 | This test evaluates the RAB39B gene for pathogenic variants associated with X-linked intellectual disability type 72. | Peripheral blood (EDTA), extracted DNA, or FTA card | 3–4 weeks | 2,800.00 AED | Details |
| RAPSN Gene Congenital Myasthenic Syndrome Type 11 (Acetylcholine Receptor Deficiency) Test TEST-5305 LOINC 102450-0 | This genetic test identifies mutations in the RAPSN gene associated with congenital myasthenic syndrome type 11, a disorder affecting neuromuscular tr... | Blood (EDTA whole blood), extracted DNA, or FTA card dried blood spot | 3 – 4 Weeks | 2,800.00 AED | Details |
| RASA1 Gene Parkes Weber Syndrome Genetic Test TEST-3978 LOINC 52906-4 | This test detects germline mutations in the RASA1 gene associated with Parkes Weber syndrome. | Peripheral whole blood (3–5 mL in EDTA tube) or FTA card finger-prick sample. | 3–4 Weeks | 2,800.00 AED | Details |
| RNF216 Gene (Gordon Holmes Syndrome) Genetic Test TEST-4480 LOINC 101649-4 | This test evaluates the RNF216 gene for pathogenic variants associated with Gordon Holmes syndrome. | Whole blood (peripheral), extracted DNA, or dried blood spot on FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| ROBO3 Gene Horizontal Gaze Palsy with Progressive Scoliosis (NGS) Genetic Test TEST-3661 LOINC 55233-1 | This genetic test evaluates the ROBO3 gene for mutations associated with Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS). It identifies patho... | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| RPGRIP1L Gene Joubert Syndrome Type 7 Genetic Test TEST-4684 LOINC 81247-9 | This test detects pathogenic variants in the RPGRIP1L gene associated with Joubert syndrome type 7. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3 to 4 Weeks | 2,800.00 AED | Details |
| RPS28 Gene Diamond-Blackfan Anemia Type 15 with Mandibulofacial Dysostosis Genetic Test TEST-3300 LOINC 74671-0 | This genetic test evaluates the RPS28 gene for mutations associated with Diamond-Blackfan anemia type 15 and mandibulofacial dysostosis. | Peripheral Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| RUNX2 Gene Cleidocranial Dysplasia Genetic Test TEST-5284 LOINC 95758-9 | This test evaluates the RUNX2 gene for pathogenic variants associated with cleidocranial dysplasia. | Peripheral Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| SCN4A Gene Hyperkalemic Periodic Paralysis Genetic Test TEST-4544 LOINC 81265-8 | This genetic test identifies pathogenic variants in the SCN4A gene associated with hyperkalemic periodic paralysis. | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3-4 Weeks | 2,800.00 AED | Details |
| SCNN1G Gene Pseudohypoaldosteronism Type 1 (Autosomal Recessive) Genetic Test TEST-3517 LOINC 92834-4 | This genetic test evaluates the SCNN1G gene for pathogenic variants associated with autosomal recessive pseudohypoaldosteronism type 1 (PHA1). | Whole Blood (EDTA), Extracted DNA, or FTA Card (one drop) | 3–4 Weeks | 2,800.00 AED | Details |
| SETBP1 Gene Schinzel‑Giedion Midface Retraction Syndrome Genetic Test TEST-2356 LOINC 81247-9 | This genetic test identifies mutations in the SETBP1 gene, confirming a diagnosis of Schinzel‑Giedion syndrome. | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 weeks | 2,800.00 AED | Details |
| SH2D1A Gene (X-Linked Lymphoproliferative Syndrome Type 1) Genetic Test TEST-3243 LOINC 81263-9 | This genetic test analyzes the SH2D1A gene to detect mutations causing X-linked lymphoproliferative syndrome type 1 (XLP1), a severe immunodeficiency. | Peripheral whole blood, FTA card, or extracted DNA | 3–4 weeks | 2,800.00 AED | Details |
| SHBG Gene (Androgen-Binding Protein Deficiency) Genetic Test TEST-3923 LOINC 94762-0 | This genetic test identifies pathogenic variants within the SHBG gene associated with androgen-binding protein deficiency. | Whole blood (EDTA), extracted DNA, or FTA card | 10–14 business days | 2,800.00 AED | Details |
| SLC26A5 Gene Deafness, Autosomal Recessive Type 61 Genetic Test TEST-5667 LOINC 93428-1 | This genetic test identifies pathogenic variants in the SLC26A5 gene associated with autosomal recessive non-syndromic sensorineural hearing loss (DFN... | Whole blood, extracted DNA, or FTA card (dried blood spot) | 3–4 weeks (routine) | 2,800.00 AED | Details |
| SLC2A2 Gene Fanconi-Bickel Syndrome Genetic Test TEST-6377 LOINC 48018-6 | This genetic test evaluates the SLC2A2 gene for mutations associated with Fanconi-Bickel syndrome. | Whole Blood (EDTA) or Buccal Swab | 21–28 Business Days | 2,800.00 AED | Details |
| SLC34A1 Gene Nephrolithiasis/Osteoporosis, Hypophosphatemic Type 1 Genetic Test TEST-3625 LOINC 89335-0 | This genetic test evaluates the SLC34A1 gene for pathogenic variants associated with hypophosphatemic nephrolithiasis/osteoporosis type 1. | Whole blood (EDTA) | 3–4 weeks | 2,800.00 AED | Details |
| SLC35A3 Gene Arthrogryposis, Intellectual Disability, and Seizures Genetic Test TEST-5398 LOINC 21636-6 | This test evaluates the SLC35A3 gene for pathogenic variants associated with arthrogryposis, intellectual disability, and seizures. | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| SLITRK1 Gene Tourette Syndrome Genetic Test TEST-5923 LOINC 94500-5 | This test detects pathogenic variants in the SLITRK1 gene associated with Tourette syndrome. | Venous Blood or Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| SLX4 Gene Fanconi Anemia Type P Genetic Test TEST-6375 LOINC 93344-3 | This genetic test identifies mutations in the SLX4 gene associated with Fanconi anemia type P. | Peripheral whole blood | 3 to 4 Weeks | 2,800.00 AED | Details |
| SOX9 Gene Campomelic Dysplasia Genetic Test TEST-3030 LOINC 94228-7 | This test evaluates the SOX9 gene for pathogenic variants associated with Campomelic Dysplasia. | Whole Blood, Extracted DNA, or One‑drop Blood on FTA Card | 3–4 weeks | 2,800.00 AED | Details |
| SPINK5 Gene Netherton Syndrome Genetic Test TEST-4759 LOINC 95135-6 | This genetic test evaluates the SPINK5 gene for pathogenic variants associated with Netherton syndrome. | Whole Blood (EDTA, 3–5 mL), Extracted DNA, or FTA Card Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| TAC3 Gene Hypogonadotropic Hypogonadism Type 10 Genetic Test TEST-3766 LOINC 21622-7 | This test identifies pathogenic variants in the TAC3 gene, confirming the molecular basis for hypogonadotropic hypogonadism type 10. | Whole Blood (EDTA) | 21–28 calendar days | 2,800.00 AED | Details |
| TCF4 Gene Pitt-Hopkins Syndrome Genetic Test TEST-2427 LOINC 82939-0 | This genetic test analyzes the TCF4 gene to identify mutations associated with Pitt-Hopkins Syndrome. | Whole Blood (EDTA), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| TGFBR2 Gene Loeys-Dietz Syndrome Type 2B Genetic Test TEST-4815 LOINC 81317-1 | This test analyzes the TGFBR2 gene for pathogenic variants associated with Loeys-Dietz syndrome type 2B. | Whole Blood (3-5 mL) or Buccal Swab | 3–4 weeks | 2,800.00 AED | Details |
| TMEM138 Gene Joubert Syndrome Type 16 Genetic Test TEST-4577 LOINC 81409-1 | This test evaluates the TMEM138 gene for pathogenic variants associated with Joubert syndrome type 16. | Peripheral whole blood (EDTA) or dried blood spot (DBS) | 3–4 Weeks | 2,800.00 AED | Details |
| TNFRSF11A Gene Sequencing for Autosomal Recessive Osteopetrosis Type 7 (NGS) Test TEST-4686 LOINC 81322-7 | This test evaluates the TNFRSF11A gene for mutations associated with autosomal recessive osteopetrosis type 7. | Whole blood (EDTA) or FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| TREX1 Gene Aicardi-Goutières Syndrome Type 1 Genetic Test TEST-3739 LOINC 21636-6 | This test evaluates the TREX1 gene for pathogenic variants associated with Aicardi-Goutières syndrome type 1. | Peripheral Whole Blood (EDTA) or Extracted DNA | 3 to 4 Weeks | 2,800.00 AED | Details |
| TRIP11 Gene Achondrogenesis Type 1A Genetic Test (NGS) TEST-5454 LOINC 51966-0 | This test identifies pathogenic variants in the TRIP11 gene associated with Achondrogenesis Type 1A. | Peripheral whole blood, extracted DNA, or FTA card blood spot | 3–4 Weeks | 2,800.00 AED | Details |
| TRMT5 Gene Test TEST-6257 LOINC 55233-1 | This test identifies pathogenic variants in the TRMT5 gene associated with Combined Oxidative Phosphorylation Deficiency Type 26 (COXPD26). | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3–4 Weeks | 2,800.00 AED | Details |
| TYR Gene Genetic Test for Oculocutaneous Albinism Type 1A TEST-3488 LOINC 48004-8 | This genetic test identifies pathogenic variants within the TYR gene associated with oculocutaneous albinism type 1A. | Whole Blood, Extracted DNA, or One-drop Blood on FTA Card | 3 – 4 Weeks | 2,800.00 AED | Details |
| UBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome Genetic Test TEST-3515 LOINC 92807-8 | This test identifies pathogenic variants within the UBE3B gene associated with Blepharophimosis-Ptosis-Intellectual Disability syndrome (BPID). It use... | Peripheral whole blood (EDTA), FTA card, or extracted DNA | 3–4 Weeks | 2,800.00 AED | Details |
| USP9X Gene Mental Retardation, X-linked Type 99 Genetic Test TEST-5068 LOINC 55233-1 | This test identifies genetic variants in the USP9X gene associated with X-linked mental retardation type 99. | Peripheral whole blood | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| WAS Gene (X‑Linked Intermittent Thrombocytopenia) Genetic Test TEST-3160 LOINC 103204-5 | This test evaluates the entire WAS gene for pathogenic variants associated with X‑linked intermittent thrombocytopenia (XLT). It identifies single nuc... | Peripheral Whole Blood | 3–4 Weeks | 2,800.00 AED | Details |
| WDR81 Gene Analysis (CAMRQ2 Syndrome) Test TEST-4885 LOINC 81264-8 | This test detects pathogenic variants in the WDR81 gene associated with CAMRQ2 syndrome. | Whole Blood EDTA, Extracted DNA ≥ 1 µg, or FTA Card | 21–28 Days (3–4 Weeks) | 2,800.00 AED | Details |
| WNT10B Gene Split-Hand/Foot Malformation Type 6 Genetic Test TEST-2283 LOINC 51966-0 | This test analyzes the WNT10B gene for mutations associated with split-hand/foot malformation type 6 (SHFM6). It helps confirm a diagnosis and assess... | Whole Blood or DNA FTA Card | 3 to 4 weeks | 2,800.00 AED | Details |
| XK Gene (McLeod Syndrome with or without Chronic Granulomatous Disease) Genetic Test TEST-4859 LOINC 21649-0 | This test evaluates the entire XK gene for pathogenic variants associated with McLeod syndrome and potentially Chronic Granulomatous Disease (CGD). It... | Peripheral Whole Blood (EDTA), 3–5 mL | 3–4 Weeks (Expedited available) | 2,800.00 AED | Details |
| ZNF674 Gene Mental Retardation, X-Linked Type 92 Genetic Test TEST-5055 LOINC 86246-4 | This test identifies pathogenic variants in the ZNF674 gene associated with X-linked intellectual disability type 92. | Whole Blood (peripheral venous or capillary FTA card) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
Clinical overview
About Single Gene 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 Single Gene Disorders evaluates your DNA for a curated selection of mutations known to cause distinct monogenic conditions. Utilizing state-of-the-art sequencing technology, this empowering molecular screening provides the critical clarity needed to assess carrier status, safely guiding informed family planning, IVF decisions, and specialized reproductive counseling. Widely respected for compassionate family planning among top diagnostic labs in the UAE, DNA Labs ensures absolute patient confidentiality, uncompromising analytical accuracy, and rapid, dependable reporting. Safeguard your family’s future—schedule your single gene disorders testing in UAE, arrange a comfortable clinic or home sample collection, or connect with our dedicated reproductive specialists.
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 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 Single Gene 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 Single Gene 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 Single Gene 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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