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 16–30 of 133 matching tests.

Single Gene Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-2255 CHSY1 Gene Temtamy Preaxial Brachydactyly Syndrome Genetic Test This test analyzes the CHSY1 gene to detect mutations associated with Temtamy preaxial brachydactyly syndrome (TPBS). It uses Next-Generation Sequencing (NGS) to cover the entire c...	Peripheral whole blood, extracted DNA, 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 ["CHSY1 gene sequence", "Coding region variants", "Splice site variants", "Copy Number Variants (CNVs)"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any recent blood transfusions or stem cell transplants"] Indications ["Clinical suspicion of Temtamy preaxial brachydactyly syndrome (TPBS)", "Family history of TPBS", "Need for accurate recurrence risk counselling", "Need for carrier testing in family members"] Measurement technique Confirm with laboratory Codes LOINC: 94086-3 ICD-10: Q87.2 Clinical summary This test analyzes the CHSY1 gene to detect mutations associated with Temtamy preaxial brachydactyly syndrome (TPBS). It uses Next-Generation Sequencing (NGS) to cover the entire coding region and splice sites.
TEST-3525 CLCN5 Gene Dent Disease Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the CLCN5 gene", "Full exon and splice site coverage"] Parameters [] Preparation ["No dietary or medication fasting required", "Inform phlebotomist about blood-thinning medications"] Indications ["Suspected Dent disease based on clinical presentation", "Family history of Dent disease", "Carrier status clarification for female relatives", "Informed reproductive decisions for parents of an affected child"] Measurement technique Confirm with laboratory Codes LOINC: 93935-7 ICD-10: N25.8 Clinical summary This test identifies pathogenic variants in the CLCN5 gene associated with Dent disease, an X-linked renal tubular disorder.
TEST-4548 COG7 Gene Glycosylation Disorder Type 2E Genetic Test This test evaluates the COG7 gene for pathogenic variants associated with Congenital Disorder of Glycosylation Type 2E (COG7-CDG). It utilizes Next-Generation Sequencing (NGS) to d...	Peripheral whole blood (EDTA)	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["COG7 gene variants", "Single nucleotide variants (SNVs)", "Small insertions/deletions (indels)", "Copy number variations (CNVs)"] Parameters [] Preparation ["Ensure the child is well-hydrated", "Fasting is not required", "Genetic counseling session mandatory before sample collection"] Indications ["Suspected Congenital Disorder of Glycosylation Type 2E", "Neurological impairment of unknown origin", "Family history of COG7-CDG"] Measurement technique Confirm with laboratory Codes LOINC: 91867-5 ICD-10: E77.8, E77.9 Clinical summary This test evaluates the COG7 gene for pathogenic variants associated with Congenital Disorder of Glycosylation Type 2E (COG7-CDG). It utilizes Next-Generation Sequencing (NGS) to detect SNVs, indels, and CNVs.
TEST-5548 COL11A1 Gene Marshall Syndrome Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the COL11A1 gene", "Single Nucleotide Variants (SNVs)", "Insertions/Deletions (indels)", "Copy Number Variants (CNVs)"] Parameters [] Preparation ["No fasting required", "Genetic counselling session recommended before blood draw"] Indications ["Clinical suspicion of Marshall syndrome", "Family history of COL11A1-related disorders", "Need for definitive molecular diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 81260-5 ICD-10: Q87.0 Clinical summary This genetic test analyzes the COL11A1 gene to detect mutations associated with Marshall syndrome.
TEST-2856 COL2A1 Gene Genetic Test for Multiple Epiphyseal Dysplasia with Myopia and Deafness 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the COL2A1 gene"] Parameters [] Preparation ["No fasting or special preparation required"] Indications ["Suspected multiple epiphyseal dysplasia", "Family history of COL2A1-related disorders", "Paediatric patients with relevant clinical features"] Measurement technique Confirm with laboratory Codes LOINC: 83245-8 ICD-10: Q78.8 Clinical summary This test evaluates the COL2A1 gene for pathogenic variants associated with multiple epiphyseal dysplasia, myopia, and deafness.
TEST-2664 COL2A1 Gene Kniest Dysplasia Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Single nucleotide variants in COL2A1", "Small insertions/deletions in COL2A1", "Copy number changes in COL2A1"] Parameters [] Preparation ["No fasting required", "Do not discontinue prescribed medication without consulting physician"] Indications ["Confirmatory diagnosis of Kniest dysplasia", "Diagnosis of other type II collagenopathies", "Molecular subtyping", "Family planning", "Targeted surveillance"] Measurement technique Confirm with laboratory Codes LOINC: 101356-6 ICD-10: Q77.7 Clinical summary This genetic test evaluates the COL2A1 gene for pathogenic variants associated with Kniest dysplasia and other type II collagenopathies.
TEST-4131 COQ9 Gene Coenzyme Q10 Deficiency Type 5 Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["COQ9 gene sequence", "Pathogenic variants"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medication"] Indications ["Suspected primary coenzyme Q10 deficiency type 5", "Infantile-onset encephalopathy of unknown cause", "Mitochondrial disorder investigation"] Measurement technique Confirm with laboratory Codes LOINC: 94567-7 ICD-10: E75.8 Clinical summary This test evaluates the COQ9 gene for mutations associated with primary coenzyme Q10 deficiency type 5.
TEST-6162 CPT2 Gene (Carnitine Palmitoyltransferase 2 Deficiency) Infantile Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["CPT2 gene sequence", "Pathogenic variants in CPT2 gene"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Infants presenting with symptoms suggestive of CPT2 deficiency", "Family history of CPT2 deficiency", "Screening for metabolic disorders"] Measurement technique Confirm with laboratory Codes LOINC: 82184-2 ICD-10: E71.314 Clinical summary This test evaluates the CPT2 gene for pathogenic variants associated with Carnitine Palmitoyltransferase 2 Deficiency.
TEST-2239 CUL7 Gene (Three M Syndrome Type 1) Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["CUL7 gene pathogenic variants", "Coding region and splice sites of CUL7 gene"] Parameters [] Preparation [] Indications ["Diagnosis of Three M syndrome type 1", "Carrier testing in families with known CUL7 variant", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 94219-1 ICD-10: Q87.1 Clinical summary This test identifies pathogenic variants in the CUL7 gene, confirming a diagnosis of Three M syndrome type 1.
TEST-3610 DCDC2 Gene Nephronophthisis Type 19 Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic mutations in the DCDC2 gene", "Copy number variants in the DCDC2 gene"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Suspected nephronophthisis type 19", "Family history of nephronophthisis", "Early-onset renal disease"] Measurement technique Confirm with laboratory Codes LOINC: 101387-5 ICD-10: Q61.9 Clinical summary This test detects pathogenic mutations in the DCDC2 gene, which are associated with autosomal recessive nephronophthisis type 19.
TEST-2398 DHODH Gene Postaxial Acrofacial Dysostosis Genetic Test This genetic test evaluates the DHODH gene for mutations associated with postaxial acrofacial dysostosis (Miller syndrome). It identifies pathogenic variants to aid in diagnosis an...	Peripheral Whole Blood or FTA Card	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["DHODH gene sequence", "Pathogenic variants in DHODH gene"] Parameters [] Preparation [] Indications ["Clinical suspicion of postaxial acrofacial dysostosis (Miller syndrome)", "Family history of Miller syndrome", "Genetic counseling for affected families"] Measurement technique Confirm with laboratory Codes LOINC: 81260-5 ICD-10: Q87.0 Clinical summary This genetic test evaluates the DHODH gene for mutations associated with postaxial acrofacial dysostosis (Miller syndrome). It identifies pathogenic variants to aid in diagnosis and genetic counseling.
TEST-4565 DLL3 Gene Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the DLL3 gene", "Copy number variants (CNV) in the DLL3 gene"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medication without consulting your physician"] Indications ["Suspected autosomal recessive spondylocostal dysostosis type 1", "Genetic counselling for families with affected individuals"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: Q76.4 Clinical summary This test identifies pathogenic variants in the DLL3 gene associated with autosomal recessive spondylocostal dysostosis type 1.
TEST-2847 DOK7 Gene Fetal Akinesia Deformation Sequence Genetic Test This genetic test analyzes the DOK7 gene for pathogenic variants associated with fetal akinesia deformation sequence (FADS) and congenital myasthenic syndrome.	Peripheral whole blood 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 DOK7 gene", "Single nucleotide variants", "Small indels"] Parameters [{"name": "Analytical Sensitivity", "reference_range": ">99.9% for single nucleotide variants and small indels"}, {"name": "Gene Coverage", "reference_range": "Full DOK7 gene including exon/intron boundaries, deep intronic regions"}] Preparation ["No specific patient preparation required"] Indications ["Suspected FADS", "Suspected congenital myasthenic syndrome", "Family history of FADS or related disorders", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: Q87.8 Clinical summary This genetic test analyzes the DOK7 gene for pathogenic variants associated with fetal akinesia deformation sequence (FADS) and congenital myasthenic syndrome.
TEST-2777 ECE1 Gene Hirschsprung Disease Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the ECE1 gene", "Entire coding region and flanking splice sites"] Parameters [] Preparation [] Indications ["Neonates and infants with clinical signs of distal intestinal obstruction", "Children with a family history of aganglionosis", "Couples seeking reproductive risk assessment"] Measurement technique Confirm with laboratory Codes LOINC: 91853-6 ICD-10: Q43.1 Clinical summary This test identifies pathogenic variants in the ECE1 gene associated with Hirschsprung disease.
TEST-5265 ELN Gene Cutis Laxa, Autosomal Dominant Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the ELN gene", "Copy Number Variations (CNVs) in the ELN gene"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Clinical suspicion of autosomal dominant cutis laxa", "Family history of cutis laxa", "Need for accurate prognosis and management"] Measurement technique Confirm with laboratory Codes LOINC: 94093-8 ICD-10: Q82.8 Clinical summary This genetic test identifies pathogenic variants in the ELN gene associated with autosomal dominant cutis laxa.

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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Use the test details as a conversation starter

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.