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 46–60 of 133 matching tests.

Single Gene Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-2806 GLI3 Gene Greig Cephalopolysyndactyly Syndrome Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the GLI3 gene"] Parameters [] Preparation ["Informed consent required", "Pre-test genetic counselling required", "Pedigree chart required"] Indications ["Suspected Greig cephalopolysyndactyly syndrome", "Family history of GCPS", "Evaluation of syndromic features"] Measurement technique Confirm with laboratory Codes LOINC: 95236-8 ICD-10: Q87.0 Clinical summary This genetic test evaluates the GLI3 gene for pathogenic variants associated with Greig cephalopolysyndactyly syndrome.
TEST-4727 GNAS Gene Progressive Osseous Heteroplasia (POH) Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the GNAS gene", "SNVs", "Small indels"] Parameters [] Preparation ["No fasting required", "No medication adjustments required"] Indications ["Suspected Progressive Osseous Heteroplasia (POH)", "Differentiation from similar heterotopic ossification syndromes"] Measurement technique Confirm with laboratory Codes LOINC: 81660-2 ICD-10: M61.50, Q87.8, Z13.79 Clinical summary This test detects pathogenic variants in the GNAS gene associated with Progressive Osseous Heteroplasia (POH).
TEST-4069 GP1BB Gene Bernard-Soulier Syndrome Type B Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["GP1BB gene pathogenic variants", "Copy-number variations (CNV) in GP1BB"] Parameters [] Preparation ["Fasting for 4 hours prior if a whole blood sample is taken", "Completed clinical history and genetic counselling session required"] Indications ["Suspected Bernard-Soulier syndrome type B", "Family history of Bernard-Soulier syndrome type B", "Evaluation of unexplained bleeding disorders"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: D69.1 Clinical summary This genetic test evaluates the GP1BB gene for pathogenic variants associated with Bernard-Soulier syndrome type B.
TEST-3037 HDAC4 Gene Mutation Analysis for Brachydactyly-Mental Retardation Syndrome (NGS) Test This test identifies pathogenic variants within the HDAC4 gene associated with Brachydactyly-Mental Retardation Syndrome (BDMR). It utilizes Next-Generation Sequencing (NGS) for co...	Whole blood, DNA 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 ["HDAC4 gene variants", "Single Nucleotide Variants (SNVs)", "Insertions/Deletions (indels)", "Copy Number Variants (CNVs) ≥1 kb"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any recent bone marrow transplant"] Indications ["Suspected diagnosis of Brachydactyly-Mental Retardation Syndrome (BDMR)", "Family history of BDMR", "Need for definitive genetic diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: Q87.8 Clinical summary This test identifies pathogenic variants within the HDAC4 gene associated with Brachydactyly-Mental Retardation Syndrome (BDMR). It utilizes Next-Generation Sequencing (NGS) for comprehensive analysis.
TEST-5852 HEXA Gene Tay-Sachs Disease Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["HEXA gene sequence", "Pathogenic variants in HEXA gene"] Parameters [{"name": "Sensitivity", "reference_range": "99.9%"}] Preparation ["No specific fasting required", "Inform lab of any recent blood transfusions"] Indications ["Diagnosis of Tay-Sachs disease", "Carrier screening for Tay-Sachs disease", "Pre-implantation genetic diagnosis (PGD) support", "Prenatal diagnosis support"] Measurement technique Confirm with laboratory Codes LOINC: 81261-3 ICD-10: E75.02 Clinical summary This test evaluates the HEXA gene for mutations associated with Tay-Sachs disease and carrier status.
TEST-6022 HIBCH Gene 3‑Hydroxyisobutyryl‑CoA Hydrolase Deficiency Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the HIBCH gene"] Parameters [] Preparation ["No specific fasting required.", "Do not discontinue prescribed medications without consulting your physician."] Indications ["Infants and children presenting with developmental regression, hypotonia, and metabolic acidosis suggestive of a valine metabolism defect.", "At-risk family members after genetic counselling."] Measurement technique Confirm with laboratory Codes LOINC: 82939-0 ICD-10: E71.19 Clinical summary This genetic test identifies pathogenic variants in the HIBCH gene, confirming a diagnosis of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency.
TEST-6214 HOGA1 Gene Hyperoxaluria Type 3 Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["HOGA1 gene sequence", "Pathogenic variants (SNVs, indels, CNVs)"] Parameters [] Preparation ["No special dietary restrictions needed", "Inform team of recent blood transfusion (within 14 days) or anticoagulant therapy"] Indications ["Suspected primary hyperoxaluria type 3", "Family history of primary hyperoxaluria", "Recurrent calcium-oxalate kidney stones with unclear etiology"] Measurement technique Confirm with laboratory Codes LOINC: 94735-4 ICD-10: E72.53 Clinical summary This test evaluates the HOGA1 gene for pathogenic variants associated with primary hyperoxaluria type 3.
TEST-3103 HOXA1 Gene Genetic Test for Athabaskan Brainstem Dysgenesis Syndrome 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the HOXA1 gene", "Copy number variants within the HOXA1 gene"] Parameters [] Preparation ["No fasting required", "No special preparation required", "Mandatory genetic counselling session prior to sampling", "Clinical history interview and pedigree chart completion required"] Indications ["Individuals with clinical features suggestive of ABDS", "Diagnosis confirmation", "Family planning", "Carrier testing"] Measurement technique Confirm with laboratory Codes LOINC: 97570-2 ICD-10: Q87.89, H49.81, H90.3 Clinical summary This test evaluates the entire coding region of the HOXA1 gene for pathogenic variants associated with Athabaskan brainstem dysgenesis syndrome.
TEST-3019 HOXD13 Gene Brachydactyly Type E1 Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the HOXD13 gene", "Full coding region and exon-intron boundaries"] Parameters [] Preparation ["Pre-test genetic counselling is mandatory", "Pedigree chart documentation required"] Indications ["Diagnosis of brachydactyly type E1", "Family risk stratification", "Dysmorphology assessment"] Measurement technique Confirm with laboratory Codes LOINC: 82349-0 ICD-10: Q74.8 Clinical summary This test detects pathogenic variants in the HOXD13 gene, the definitive molecular cause of brachydactyly type E1.
TEST-3017 HOXD13-Related Brachydactyly-Syndactyly Syndrome Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["HOXD13 gene sequence", "Pathogenic variants", "Copy Number Variations (CNV)"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any relevant family history"] Indications ["Suspected Brachydactyly-Syndactyly Syndrome", "Family history of limb malformations", "Genetic counseling for family planning"] Measurement technique Confirm with laboratory Codes LOINC: 90553-1 ICD-10: Q70.0, Q71.8 Clinical summary This test analyzes the HOXD13 gene to identify pathogenic mutations associated with Brachydactyly-Syndactyly Syndrome.
TEST-5853 HSD17B3 Gene Pseudohermaphroditism with Gynecomastia Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["HSD17B3 gene sequence", "Pathogenic variants (SNVs, indels, CNVs)"] Parameters [] Preparation ["Pre-test genetic counselling session required", "Avoid aspirin 48 hours before collection", "No fasting required"] Indications ["Diagnosis of 46,XY disorder of sex development", "Confirmation of HSD17B3 deficiency", "Family screening for HSD17B3 mutations", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 94219-6 ICD-10: E25.8 Clinical summary This genetic test evaluates the HSD17B3 gene for mutations causing 46,XY disorder of sex development.
TEST-6279 IDUA Gene Hurler‑Scheie Syndrome Genetic Test This test sequences the entire IDUA gene to detect pathogenic variants associated with Hurler‑Scheie syndrome (MPS I). It identifies mutations responsible for the disorder.	Whole Blood (Peripheral) – 3 mL in EDTA tube	3–4 Weeks (21–28 Business Days)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the IDUA gene", "Coding region and splice-site boundaries of the IDUA gene"] Parameters [] Preparation ["No specific fasting required", "No medication adjustments needed unless advised by physician"] Indications ["Confirmatory diagnosis in symptomatic individuals", "Carrier screening in at-risk family members", "Pre-conception risk assessment"] Measurement technique Confirm with laboratory Codes LOINC: 92846-6 ICD-10: E76.03 Clinical summary This test sequences the entire IDUA gene to detect pathogenic variants associated with Hurler‑Scheie syndrome (MPS I). It identifies mutations responsible for the disorder.
TEST-6149 IGF1R Gene Insulin-Like Growth Factor Resistance Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["IGF1R gene pathogenic variants", "Deletion and duplication analysis (CNV detection)"] Parameters [] Preparation [] Indications ["Investigation of syndromic short stature", "Suspected insulin-like growth factor-1 resistance"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: E34.3 Clinical summary This genetic test evaluates the IGF1R gene for pathogenic variants associated with insulin-like growth factor-1 resistance.
TEST-5005 IQSEC2 Gene X-Linked Intellectual Disability Type 1 (XLID) Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["IQSEC2 gene sequence", "Pathogenic variants"] Parameters [] Preparation [] Indications ["Males with unexplained moderate-to-severe intellectual disability", "Epilepsy", "Stereotypic hand movements"] Measurement technique Confirm with laboratory Codes LOINC: 94490-0 ICD-10: F78.9 Clinical summary This genetic test analyzes the IQSEC2 gene to identify variants associated with X-Linked Intellectual Disability Type 1.
TEST-3121 JAG1 Gene Alagille Syndrome Type 1 Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["JAG1 gene sequence", "Copy number variants in JAG1"] Parameters [] Preparation ["Informed consent must be obtained prior to sample collection.", "Do not discontinue prescribed medications without consulting the managing physician."] Indications ["Confirming clinical diagnosis of Alagille syndrome type 1", "Screening at-risk relatives", "Guiding neonatal management", "Prenatal diagnosis (with known familial variant)"] Measurement technique Confirm with laboratory Codes LOINC: 81301-2 ICD-10: Q44.7 Clinical summary This test evaluates the JAG1 gene for pathogenic variants associated with Alagille syndrome type 1.

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.