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Diagnostic options Β· UAE

Genetic Disorders tests in Dubai & UAE

Compare available Genetic 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

136

Listed price range

1,100.00–4,800.00 AED

Clinical preparation

Confirm test-specific instructions with your clinician or laboratory.

Compare available tests

Genetic Disorders test prices

Showing 46–60 of 136 matching tests.

Genetic Disorders diagnostic tests, details, and listed prices
Test and description Specimen Typical duration Price Options
TEST-6172
EGF Gene Hypomagnesemia Type 4 Genetic Test

This test evaluates the entire coding region and exon-intron boundaries of the EGF gene for pathogenic variants associated with Autosomal Dominant Hypomagnesemia Type 4.

Whole blood (EDTA tube), extracted DNA (β‰₯1 Β΅g), or FTA card 3–4 weeks 2,800.00 AED
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What it measures
["Pathogenic variants in the EGF gene", "Single nucleotide variants (SNVs)", "Small insertions/deletions (indels)", "Copy number variations (CNVs)"]
Parameters
[]
Preparation
["Inform the team about all current medications, especially magnesium supplements or diuretics.", "Do not discontinue prescribed medications without consulting your physician."]
Indications
["Suspected Autosomal Dominant Hypomagnesemia Type 4", "Unexplained hypomagnesemia with renal wasting", "Family history of hypomagnesemia"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 50398-7 ICD-10: E83.42
Clinical summary
This test evaluates the entire coding region and exon-intron boundaries of the EGF gene for pathogenic variants associated with Autosomal Dominant Hypomagnesemia Type 4.
TEST-2682
EHMT1 Gene Kleefstra Syndrome Genetic Test

This test detects pathogenic variants in the EHMT1 gene, confirming a diagnosis of Kleefstra syndrome.

Whole blood (EDTA) or FTA card 3–4 weeks 2,800.00 AED
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What it measures
["Pathogenic variants in the EHMT1 gene", "Point mutations", "Small indels"]
Parameters
[]
Preparation
["Prior genetic counselling session is mandatory"]
Indications
["Clinical suspicion of Kleefstra syndrome", "Neurodevelopmental disorder with characteristic features"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 21636-6 ICD-10: Q87.89
Clinical summary
This test detects pathogenic variants in the EHMT1 gene, confirming a diagnosis of Kleefstra syndrome.
TEST-4699
EIF2B5 Gene Leukoencephalopathy with Vanishing White Matter Genetic Test

This genetic test detects pathogenic mutations in the EIF2B5 gene associated with Vanishing White Matter disease.

Peripheral whole blood (EDTA), dried blood spot (FTA card), or extracted DNA 3 to 4 weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic mutations in the EIF2B5 gene", "Single nucleotide variants (SNVs)", "Insertions/deletions (indels)", "Copy number changes"]
Parameters
[]
Preparation
[]
Indications
["Suspected Vanishing White Matter disease (VWM)", "Family history of VWM", "Neurological symptoms consistent with leukodystrophy"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 81247-9 ICD-10: G31.89
Clinical summary
This genetic test detects pathogenic mutations in the EIF2B5 gene associated with Vanishing White Matter disease.
TEST-4501
ERCC2 Gene Trichothiodystrophy Genetic Test

This genetic test evaluates the ERCC2 gene for variants associated with trichothiodystrophy.

Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["ERCC2 gene sequence", "Variants associated with trichothiodystrophy"]
Parameters
[]
Preparation
["Do not discontinue prescribed medication without consulting your doctor"]
Indications
["Suspected trichothiodystrophy", "Family screening for TTD", "Cancer predisposition assessment (xeroderma pigmentosum-TTD overlap)"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 21639-2 ICD-10: Q82.8
Clinical summary
This genetic test evaluates the ERCC2 gene for variants associated with trichothiodystrophy.
TEST-4491
ERCC6 Gene (UV-Sensitive Syndrome Type 1) Genetic Test

This test identifies mutations in the ERCC6 gene associated with UV-sensitive syndrome type 1.

Peripheral Whole Blood or Buccal Swab 3 to 4 Weeks 2,800.00 AED
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What it measures
["ERCC6 gene mutations", "DNA repair capacity related to UV radiation"]
Parameters
[{"name": "Methodology", "reference_range": "Next-Generation Sequencing (NGS) – full gene coverage"}, {"name": "Analytical Sensitivity", "reference_range": "99.9%"}, {"name": "Variant Detection", "reference_range": "SNVs, indels, copy‑number changes (CNVs)"}]
Preparation
["No fasting required"]
Indications
["Suspected UV-sensitive syndrome type 1", "Family history of UV-sensitive syndrome type 1", "Severe sun sensitivity with no other explanation"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 94464-0 ICD-10: Q82.8
Clinical summary
This test identifies mutations in the ERCC6 gene associated with UV-sensitive syndrome type 1.
TEST-2952
ERCC6 Gene Cockayne Syndrome Type B Genetic Test

This genetic test identifies pathogenic variants in the ERCC6 gene associated with Cockayne syndrome type B.

Whole blood (EDTA), Saliva, or FTA card 3–4 Weeks from sample receipt 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the ERCC6 gene", "Deep coverage of ERCC6 exons Β±10 bp splice sites"]
Parameters
[]
Preparation
[]
Indications
["Suspected Cockayne syndrome type B", "Progressive neurodegeneration", "Growth failure", "Photosensitivity"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 81304-3 ICD-10: G96.8
Clinical summary
This genetic test identifies pathogenic variants in the ERCC6 gene associated with Cockayne syndrome type B.
TEST-4853
FBLIM1 Gene (Kindler Syndrome) Genetic Test

This test evaluates the entire FBLIM1 gene for mutations associated with Kindler syndrome.

Peripheral Whole Blood (or extracted DNA / dried blood spot on FTA card) 3 to 4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Single nucleotide variants", "Insertions/Deletions (Indels)", "Deep intronic mutations"]
Parameters
[]
Preparation
["Pre-genetic counseling required", "Informed consent required"]
Indications
["Suspected Kindler syndrome", "Family history of Kindler syndrome", "Atypical presentations requiring genetic confirmation"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 59025-7 ICD-10: Q82.8
Clinical summary
This test evaluates the entire FBLIM1 gene for mutations associated with Kindler syndrome.
TEST-3636
FBN1 Gene Sequencing Test (Ectopia Lentis, Familial)

This test evaluates the FBN1 gene for pathogenic variants associated with familial ectopia lentis and Marfan syndrome.

Whole blood, FTA card, or extracted DNA 3–4 weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["FBN1 gene variants", "Single-nucleotide variants (SNVs)", "Insertions/deletions (indels)", "Copy-number variants (CNVs)"]
Parameters
[]
Preparation
["Inform phlebotomist if taking blood thinners (e.g., warfarin, aspirin)", "Do not discontinue prescribed medication without consulting your doctor"]
Indications
["Diagnosis of familial ectopia lentis", "Diagnosis of Marfan syndrome", "Genetic counseling for affected families"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 97636-1 ICD-10: Q10.1
Clinical summary
This test evaluates the FBN1 gene for pathogenic variants associated with familial ectopia lentis and Marfan syndrome.
TEST-2262
FBN1 Gene Stiff Skin Syndrome Genetic Test

This genetic test analyzes the FBN1 gene to detect pathogenic variants associated with stiff skin syndrome.

Whole blood (EDTA), extracted DNA, or FTA card (dried blood spot) 3 to 4 weeks from sample arrival 2,800.00 AED
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View test specifications and preparation
What it measures
["FBN1 gene pathogenic variants", "Copy Number Variations (CNV) in FBN1"]
Parameters
[]
Preparation
["Do not discontinue prescribed medication", "Do not discontinue physiotherapy"]
Indications
["Diagnosis of stiff skin syndrome", "Molecular confirmation in suspected cases"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 88515-7 ICD-10: M35.8
Clinical summary
This genetic test analyzes the FBN1 gene to detect pathogenic variants associated with stiff skin syndrome.
TEST-5263
FBN2 Gene Congenital Contractural Arachnodactyly Genetic Test

This diagnostic test evaluates the FBN2 gene for pathogenic variants associated with congenital contractural arachnodactyly (Beals syndrome).

Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the FBN2 gene", "Single nucleotide variants (SNVs)", "Small insertions/deletions (indels)"]
Parameters
[{"name": "FBN2 Gene Sequencing", "reference_range": "No pathogenic variants detected"}]
Preparation
["No specific fasting required.", "Inform the lab of any medications being taken."]
Indications
["Clinical suspicion of congenital contractural arachnodactyly (Beals syndrome)", "Family history of Beals syndrome", "Need for genetic confirmation for diagnosis and management", "Family planning and genetic counseling"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 60436-5 ICD-10: Q87.4
Clinical summary
This diagnostic test evaluates the FBN2 gene for pathogenic variants associated with congenital contractural arachnodactyly (Beals syndrome).
TEST-4623
FECH Gene Sequencing for Erythropoietic Protoporphyria (EPP) Test

This test identifies pathogenic variants in the FECH gene, providing a definitive molecular diagnosis for Erythropoietic Protoporphyria (EPP).

Peripheral whole blood 3–4 weeks 2,800.00 AED
View
View test specifications and preparation
What it measures
["Pathogenic variants in the FECH gene"]
Parameters
[]
Preparation
["No specific fasting required", "Inform phlebotomist of any medications"]
Indications
["Suspected Erythropoietic Protoporphyria (EPP)", "Family history of EPP", "Severe photosensitivity unresponsive to standard treatments"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 81303-8 ICD-10: E80.0
Clinical summary
This test identifies pathogenic variants in the FECH gene, providing a definitive molecular diagnosis for Erythropoietic Protoporphyria (EPP).
TEST-4835
FERMT1 Gene Kindler Syndrome Genetic Test

This test evaluates the FERMT1 gene for pathogenic variants associated with Kindler syndrome.

Peripheral Whole Blood (EDTA tube) 3–4 Weeks 2,800.00 AED
View
View test specifications and preparation
What it measures
["Pathogenic variants in the FERMT1 gene", "Full gene sequence coverage (exons and intron/exon boundaries)"]
Parameters
[]
Preparation
[]
Indications
["Clinical features suggestive of Kindler syndrome", "Autosomal recessive inheritance pattern suspected"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 21636-6 ICD-10: Q82.8
Clinical summary
This test evaluates the FERMT1 gene for pathogenic variants associated with Kindler syndrome.
TEST-5003
FGF23 Gene, Autosomal Dominant Hypophosphatemic Rickets Test

This test analyzes the FGF23 gene to identify mutations causing Autosomal Dominant Hypophosphatemic Rickets (ADHR).

Whole Blood (EDTA), FTA Card, or Extracted DNA 3–4 Weeks 2,800.00 AED
View
View test specifications and preparation
What it measures
["FGF23 gene coding region", "Pathogenic variants"]
Parameters
[]
Preparation
["No specific fasting required", "Continue prescribed medications unless advised otherwise"]
Indications
["Suspected Autosomal Dominant Hypophosphatemic Rickets (ADHR)", "Family history of early-onset rickets", "Differentiation from other hypophosphatemic conditions"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 91653-5 ICD-10: E83.31
Clinical summary
This test analyzes the FGF23 gene to identify mutations causing Autosomal Dominant Hypophosphatemic Rickets (ADHR).
TEST-4425
FLNA Gene (Frontometaphyseal Dysplasia) Genetic Test

This test identifies pathogenic variants in the FLNA gene associated with frontometaphyseal dysplasia.

Venous Blood (EDTA) or Buccal Swab / DNA FTA Card 3–4 Weeks 2,800.00 AED
View
View test specifications and preparation
What it measures
["Pathogenic variants in the FLNA gene"]
Parameters
[]
Preparation
["Pre-test genetic counselling is mandatory", "Family pedigree chart is mandatory"]
Indications
["Suspected frontometaphyseal dysplasia", "Family history of FLNA-related disorders", "Need for accurate recurrence risk counselling"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 48804-5 ICD-10: Q78.8
Clinical summary
This test identifies pathogenic variants in the FLNA gene associated with frontometaphyseal dysplasia.
TEST-5836
FMO3 Gene Trimethylaminuria Genetic Test

This test identifies pathogenic variants in the FMO3 gene, confirming a genetic diagnosis of Trimethylaminuria (TMAU).

Peripheral Whole Blood (EDTA) or Saliva 3 – 4 Weeks 2,800.00 AED
View
View test specifications and preparation
What it measures
["Pathogenic variants in the FMO3 gene", "Trimethylamine metabolism pathway"]
Parameters
[]
Preparation
["Discuss current medications and supplements with your healthcare provider prior to testing.", "Avoid choline and lecithin supplements before testing."]
Indications
["Suspected Trimethylaminuria (TMAU)", "Confirmation of diagnosis after positive biochemical screening", "Carrier detection", "Family planning"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 94137-0 ICD-10: E88.89
Clinical summary
This test identifies pathogenic variants in the FMO3 gene, confirming a genetic diagnosis of Trimethylaminuria (TMAU).

Category overview

Genetic 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 Genetic Disorders evaluates your DNA for a curated selection of mutations known to cause distinct, multi-system hereditary conditions. Utilizing state-of-the-art sequencing technology, this empowering molecular screening provides the critical clarity needed to assess carrier status and diagnostic risks, safely guiding informed family planning, proactive medical interventions, and specialized reproductive counseling. Widely respected for compassionate diagnostic excellence among premier diagnostic labs in Dubai and the UAE, DNA Labs ensures strict patient confidentiality, uncompromising analytical accuracy, and rapid, dependable reporting. Safeguard your family’s futureβ€”book your genetic disorders testing in UAE, arrange a comfortable clinic or home sample collection, or connect with our specialized medical team.

Before booking

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.