Single Gene Disorders tests in Dubai & UAE

Compare available Single Gene Disorders tests, their listed prices and the information provided for each option. Test selection and preparation should be discussed with your clinician.

Tests in this category

133

Listed price range

2,800.00–4,000.00 AED

Clinical preparation

Confirm test-specific instructions with your clinician or laboratory.

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Single Gene Disorders test prices

Showing 106–120 of 133 matching tests.

Single Gene Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-3517 SCNN1G Gene Pseudohypoaldosteronism Type 1 (Autosomal Recessive) Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SCNN1G gene variants", "Pathogenic mutations"] Parameters [] Preparation ["No specific patient preparation required"] Indications ["Suspected PHA1 based on clinical presentation", "Neonatal salt-wasting crisis", "Family history of PHA1"] Measurement technique Confirm with laboratory Codes LOINC: 92834-4 ICD-10: E27.4 Clinical summary This genetic test evaluates the SCNN1G gene for pathogenic variants associated with autosomal recessive pseudohypoaldosteronism type 1 (PHA1).
TEST-2356 SETBP1 Gene Schinzel‑Giedion Midface Retraction Syndrome Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SETBP1 gene mutations", "Copy Number Variations (CNV) in SETBP1", "Intronic variants in SETBP1"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any anticoagulant use"] Indications ["Suspected Schinzel‑Giedion syndrome based on clinical presentation", "Family history of Schinzel‑Giedion syndrome", "Need for definitive genetic diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: Q87.0 Clinical summary This genetic test identifies mutations in the SETBP1 gene, confirming a diagnosis of Schinzel‑Giedion syndrome.
TEST-3243 SH2D1A Gene (X-Linked Lymphoproliferative Syndrome Type 1) Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the SH2D1A gene", "Point mutations", "Small insertions", "Small deletions"] Parameters [] Preparation ["No fasting or dietary preparation required", "Mandatory pre-test genetic counseling session"] Indications ["Confirmation of XLP1 diagnosis", "Evaluation of patients with severe immunodeficiency", "Family screening for XLP1"] Measurement technique Confirm with laboratory Codes LOINC: 81263-9 ICD-10: D82.3 Clinical summary This genetic test analyzes the SH2D1A gene to detect mutations causing X-linked lymphoproliferative syndrome type 1 (XLP1), a severe immunodeficiency.
TEST-3923 SHBG Gene (Androgen-Binding Protein Deficiency) Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the SHBG gene", "Genetic predisposition to SHBG deficiency"] Parameters [] Preparation [] Indications ["Patients with unexplained hyper- or hypogonadotropic hypogonadism", "Infertility", "Families with a history of androgen insensitivity", "Early-onset metabolic syndrome", "Evidence-based hormone optimisation"] Measurement technique Confirm with laboratory Codes LOINC: 94762-0 ICD-10: Z13.81 Clinical summary This genetic test identifies pathogenic variants within the SHBG gene associated with androgen-binding protein deficiency.
TEST-5667 SLC26A5 Gene Deafness, Autosomal Recessive Type 61 Genetic Test This genetic test identifies pathogenic variants in the SLC26A5 gene associated with autosomal recessive non-syndromic sensorineural hearing loss (DFNB61).	Whole blood, extracted DNA, or FTA card (dried blood spot)	3–4 weeks (routine)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SLC26A5 gene variants", "Pathogenic mutations", "Deletions/Duplications in SLC26A5"] Parameters [] Preparation ["No fasting required", "No specific medication or diet restrictions"] Indications ["Diagnosis of autosomal recessive deafness type 61 (DFNB61)", "Genetic counseling for families with hearing loss", "Carrier screening in families with a history of DFNB61"] Measurement technique Confirm with laboratory Codes LOINC: 93428-1 ICD-10: H90.3, H90.5, Z14.8 Clinical summary This genetic test identifies pathogenic variants in the SLC26A5 gene associated with autosomal recessive non-syndromic sensorineural hearing loss (DFNB61).
TEST-6377 SLC2A2 Gene Fanconi-Bickel Syndrome Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SLC2A2 gene coding region", "Mutations (SNVs, indels)"] Parameters [] Preparation ["Inform phlebotomist if on anticoagulant therapy", "Minors require legal guardian consent"] Indications ["Diagnosis of Fanconi-Bickel syndrome", "Carrier screening", "Reproductive planning"] Measurement technique Confirm with laboratory Codes LOINC: 48018-6 ICD-10: E74.09 Clinical summary This genetic test evaluates the SLC2A2 gene for mutations associated with Fanconi-Bickel syndrome.
TEST-3625 SLC34A1 Gene Nephrolithiasis/Osteoporosis, Hypophosphatemic Type 1 Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the SLC34A1 gene", "Copy Number Variants (CNV) in SLC34A1"] Parameters [] Preparation [] Indications ["Diagnosis of hypophosphatemic nephrolithiasis/osteoporosis type 1", "Family screening for SLC34A1 mutations", "Personalised therapy guidance"] Measurement technique Confirm with laboratory Codes LOINC: 89335-0 ICD-10: E83.31 Clinical summary This genetic test evaluates the SLC34A1 gene for pathogenic variants associated with hypophosphatemic nephrolithiasis/osteoporosis type 1.
TEST-5398 SLC35A3 Gene Arthrogryposis, Intellectual Disability, and Seizures Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the SLC35A3 gene", "Single nucleotide variants", "Small insertions/deletions", "Copy number changes"] Parameters [] Preparation [] Indications ["Suspected SLC35A3-related congenital disorder of glycosylation", "Individuals presenting with arthrogryposis, intellectual disability, and seizures"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: E77.8 Clinical summary This test evaluates the SLC35A3 gene for pathogenic variants associated with arthrogryposis, intellectual disability, and seizures.
TEST-5923 SLITRK1 Gene Tourette Syndrome Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the SLITRK1 gene"] Parameters [] Preparation ["No fasting required", "Avoid heavy physical exertion immediately before sampling", "Pre-test genetic counseling recommended"] Indications ["Diagnosis of Tourette syndrome", "Family risk assessment for Tourette syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 94500-5 ICD-10: F95.2 Clinical summary This test detects pathogenic variants in the SLITRK1 gene associated with Tourette syndrome.
TEST-6375 SLX4 Gene Fanconi Anemia Type P Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SLX4 gene sequence", "Single-nucleotide variants", "Small insertion-deletion mutations", "Copy-number aberrations"] Parameters [] Preparation ["Never discontinue or adjust prescribed medications without consulting your treating physician."] Indications ["Individuals with unexplained bone marrow failure", "Individuals with a family history of Fanconi anemia", "Individuals with clinical features suggestive of Fanconi anemia"] Measurement technique Confirm with laboratory Codes LOINC: 93344-3 ICD-10: D61.09 Clinical summary This genetic test identifies mutations in the SLX4 gene associated with Fanconi anemia type P.
TEST-3030 SOX9 Gene Campomelic Dysplasia Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SOX9 gene variants", "Pathogenic mutations"] Parameters [] Preparation [] Indications ["Suspected Campomelic Dysplasia", "Family history of Campomelic Dysplasia", "Reproductive risk assessment"] Measurement technique Confirm with laboratory Codes LOINC: 94228-7 ICD-10: Q77.3 Clinical summary This test evaluates the SOX9 gene for pathogenic variants associated with Campomelic Dysplasia.
TEST-4759 SPINK5 Gene Netherton Syndrome Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the SPINK5 gene", "Copy Number Variations (CNVs) in the SPINK5 gene"] Parameters [] Preparation [] Indications ["Clinical suspicion of Netherton syndrome", "Family history of Netherton syndrome", "Confirmation of diagnosis in individuals with characteristic features"] Measurement technique Confirm with laboratory Codes LOINC: 95135-6 ICD-10: Q80.4 Clinical summary This genetic test evaluates the SPINK5 gene for pathogenic variants associated with Netherton syndrome.
TEST-3766 TAC3 Gene Hypogonadotropic Hypogonadism Type 10 Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["TAC3 gene sequence", "Pathogenic variants (SNVs, indels, CNVs)"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any current hormonal therapy"] Indications ["Suspected hypogonadotropic hypogonadism type 10", "Evaluation of delayed puberty or infertility", "Family history of hypogonadotropic hypogonadism"] Measurement technique Confirm with laboratory Codes LOINC: 21622-7 ICD-10: E23.0 Clinical summary This test identifies pathogenic variants in the TAC3 gene, confirming the molecular basis for hypogonadotropic hypogonadism type 10.
TEST-2427 TCF4 Gene Pitt-Hopkins Syndrome Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Single nucleotide variants in TCF4 gene", "Small indels in TCF4 gene", "Copy number variants in TCF4 gene"] Parameters [] Preparation [] Indications ["Suspected Pitt-Hopkins Syndrome", "Evaluation of severe intellectual disability", "Dysmorphology evaluations"] Measurement technique Confirm with laboratory Codes LOINC: 82939-0 ICD-10: Q87.0 Clinical summary This genetic test analyzes the TCF4 gene to identify mutations associated with Pitt-Hopkins Syndrome.
TEST-4815 TGFBR2 Gene Loeys-Dietz Syndrome Type 2B Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the TGFBR2 gene", "Coding region variants", "Copy Number Variations (CNV)"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed cardiovascular medications without consulting your managing physician"] Indications ["Patients presenting with clinical features suggestive of Loeys-Dietz syndrome type 2B", "Family cascade screening for relatives of affected individuals"] Measurement technique Confirm with laboratory Codes LOINC: 81317-1 ICD-10: Q87.89 Clinical summary This test analyzes the TGFBR2 gene for pathogenic variants associated with Loeys-Dietz syndrome type 2B.

Category overview

Single Gene Disorders: overview

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.

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The right diagnostic option depends on your reason for testing and individual circumstances. Check the listed specimen and timing, then confirm any preparation requirements with the ordering clinician or laboratory before collection.