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 1–15 of 133 matching tests.

Single Gene Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-1876 Achondroplasia (FGFR3 Full Gene Sequence Analysis) Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["FGFR3 gene sequence", "Pathogenic variants in FGFR3"] Parameters [] Preparation ["Valid physician referral required", "Consult treating physician before altering medication or surgical plans"] Indications ["Suspected achondroplasia", "Suspected hypochondroplasia", "Prenatal diagnosis of FGFR3-related skeletal dysplasias", "Pre-implantation genetic diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 21669-6 ICD-10: Q77.4 Clinical summary This test analyzes the entire FGFR3 gene sequence to detect mutations associated with achondroplasia and related skeletal dysplasias.
TEST-2796 ADNP Gene Helsmoortel-van der Aa Syndrome Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the ADNP gene", "Single nucleotide variants (SNVs)", "Small insertions/deletions (indels)", "Copy number variants"] Parameters [] Preparation [] Indications ["Infants and children with suspected Helsmoortel-van der Aa syndrome", "Patients presenting with clinical features suggestive of ADNP-related neurodevelopmental disorder"] Measurement technique Confirm with laboratory Codes LOINC: 81305-5 ICD-10: Q87.89 Clinical summary This genetic test identifies pathogenic variants in the ADNP gene, confirming Helsmoortel-van der Aa syndrome.
TEST-5043 ANTXR2 Gene Hyaline Fibromatosis Syndrome Genetic Test This genetic test evaluates the ANTXR2 gene for mutations causing hyaline fibromatosis syndrome.	Peripheral Whole Blood	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["ANTXR2 gene mutations", "Copy number variations in ANTXR2"] Parameters [] Preparation ["No special preparation required", "Prior genetic counseling is recommended"] Indications ["Suspicion of hyaline fibromatosis syndrome", "Family history of hyaline fibromatosis syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 98059-9 ICD-10: Q82.8, M79.89, Z13.79 Clinical summary This genetic test evaluates the ANTXR2 gene for mutations causing hyaline fibromatosis syndrome.
TEST-2566 AP4M1 Gene Microcephaly Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["AP4M1 gene coding region", "AP4M1 gene conserved splice sites"] Parameters [] Preparation [] Indications ["Suspected AP4M1-related microcephaly", "Family history of autosomal recessive microcephaly"] Measurement technique Confirm with laboratory Codes LOINC: 94233-2 ICD-10: Q02 Clinical summary This test identifies pathogenic variants in the AP4M1 gene associated with autosomal recessive microcephaly.
TEST-4202 ATN1 Gene Dentatorubral-Pallidoluysian Atrophy (DRPLA) Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["ATN1 gene CAG repeat expansion size"] Parameters [] Preparation ["No fasting or special preparation is needed", "A mandatory genetic counselling session is required"] Indications ["Suspected DRPLA based on clinical symptoms", "Family history of DRPLA", "Genetic counselling for at-risk individuals"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: G11.8 Clinical summary This test detects abnormal CAG repeat expansions within the ATN1 gene, confirming a diagnosis of Dentatorubral-Pallidoluysian Atrophy (DRPLA).
TEST-5928 AUH Gene 3-Methylglutaconic Aciduria Type 1 Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the AUH gene"] Parameters [] Preparation ["No fasting required"] Indications ["Suspected 3-methylglutaconic aciduria type 1", "Family history of 3-methylglutaconic aciduria type 1"] Measurement technique Confirm with laboratory Codes LOINC: 82153-2 ICD-10: E71.111 Clinical summary This genetic test identifies pathogenic variants in the AUH gene associated with 3-methylglutaconic aciduria type 1.
TEST-5577 BCAP31 Gene Test (X‑Linked Deafness, Dystonia, and Cerebral Hypomyelination) 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["BCAP31 gene pathogenic variants", "Copy Number Variations (CNVs) in BCAP31"] Parameters [] Preparation ["Mandatory pre-test genetic counselling session required"] Indications ["Males with clinical features suggestive of the syndrome", "Carrier females with a positive family history", "Confirmation of clinical diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: Q87.8, H90.5, G24.9 Clinical summary This diagnostic test evaluates the BCAP31 gene for pathogenic variants associated with X-linked deafness-dystonia-cerebral hypomyelination syndrome.
TEST-3034 BCS1L Gene (Björnstad Syndrome) Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the BCS1L gene", "Presence of mutations causing Björnstad syndrome"] Parameters [] Preparation [] Indications ["Clinical suspicion of Björnstad syndrome", "Confirmation of diagnosis in children and adults", "Family member assessment for inheritance risk"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: Q84.1, H90.3 Clinical summary This test identifies pathogenic variants within the BCS1L gene, confirming a diagnosis of Björnstad syndrome.
TEST-4917 CD40 Gene Immunodeficiency Type 3 (Hyper-IgM Syndrome) Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["CD40 gene sequence", "Detection of SNVs, indels, CNVs"] Parameters [] Preparation ["No specific fasting required", "Inform lab of anticoagulant use"] Indications ["Suspected Hyper-IgM syndrome type 3", "Recurrent sinopulmonary infections", "Opportunistic infections", "Family history of primary immunodeficiency"] Measurement technique Confirm with laboratory Codes LOINC: 94497-8 ICD-10: D82.3 Clinical summary This genetic test evaluates the CD40 gene for variants associated with Hyper-IgM syndrome type 3, a primary immunodeficiency.
TEST-3787 CDC73 Gene (Hyperparathyroidism‑Jaw Tumor Syndrome) NGS Test This test evaluates for germline mutations within the CDC73 gene, associated with Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT). It identifies genetic predispositions to hyperpar...	Peripheral whole blood, serum, or plasma	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Germline mutations in the CDC73 gene", "Tumour suppressor gene function"] Parameters [] Preparation ["No fasting required", "No medication adjustment required"] Indications ["Diagnosis of Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT)", "Diagnosis of familial isolated hyperparathyroidism", "Risk assessment for individuals with family history of HPT-JT"] Measurement technique Confirm with laboratory Codes LOINC: 82128-6 ICD-10: E21.0 Clinical summary This test evaluates for germline mutations within the CDC73 gene, associated with Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT). It identifies genetic predispositions to hyperparathyroidism and jaw tumours.
TEST-2594 CDT1 Gene Meier‑Gorlin Syndrome Type 4 Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["CDT1 gene pathogenic variants", "Copy Number Variants (CNVs) in CDT1"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medication without consulting your physician"] Indications ["Suspected diagnosis of Meier‑Gorlin syndrome type 4", "Genetic confirmation for family planning"] Measurement technique Confirm with laboratory Codes LOINC: 81225-0 ICD-10: Q87.1 Clinical summary This genetic test identifies pathogenic variants in the CDT1 gene, confirming Meier‑Gorlin syndrome type 4.
TEST-2552 CEP152 Gene Microcephaly (Autosomal Recessive Type 9) Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the CEP152 gene"] Parameters [] Preparation ["Clinical history documentation", "Pre-test genetic counselling session", "Three-generation pedigree chart"] Indications ["Suspected primary microcephaly type 9", "Family history of microcephaly", "Genetic counselling for reproductive planning"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: Q02 Clinical summary This genetic test identifies pathogenic variants in the CEP152 gene associated with autosomal recessive primary microcephaly type 9.
TEST-2532 CEP57 Gene Analysis for Mosaic Variegated Aneuploidy Syndrome Type 2 (MVA2) Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["CEP57 gene variants (SNVs, indels)", "Constitutional mosaic aneuploidies"] Parameters [] Preparation ["No fasting required", "Detailed clinical history required", "Genetic counselling session for pedigree construction mandatory"] Indications ["Children presenting with dysmorphic features", "Growth delay", "Family history suggestive of aneuploidy syndromes"] Measurement technique Confirm with laboratory Codes LOINC: 94473-2 ICD-10: Q99.8 Clinical summary This diagnostic test evaluates the CEP57 gene for pathogenic variants associated with Mosaic Variegated Aneuploidy Syndrome Type 2 (MVA2).
TEST-5307 CHRND Gene Congenital Myasthenic Syndrome Type 3A (Slow Channel) Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the CHRND gene", "Entire coding sequence and splice sites of CHRND"] Parameters [] Preparation ["Inform phlebotomist of active febrile illness or recent blood transfusion (within 2 weeks)", "Do not discontinue prescribed medication without consulting neurologist"] Indications ["Clinical suspicion of Congenital Myasthenic Syndrome Type 3A", "Differential diagnosis from autoimmune myasthenia gravis", "Differential diagnosis from limb‑girdle muscular dystrophies", "Family planning"] Measurement technique Confirm with laboratory Codes LOINC: 94824-3 ICD-10: G70.2 Clinical summary This test identifies pathogenic variants in the CHRND gene associated with Congenital Myasthenic Syndrome Type 3A (Slow Channel).
TEST-4554 CHST3 Gene DNA Test for Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations (NGS) 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the CHST3 gene"] Parameters [] Preparation ["No specific fasting required", "Inform lab of recent blood transfusions"] Indications ["Suspected Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations", "Genetic counseling for affected families", "Family screening"] Measurement technique Confirm with laboratory Codes LOINC: 50397-9 ICD-10: Q77.7 Clinical summary This test evaluates the CHST3 gene for pathogenic variants associated with Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.

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.