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Diagnostic options · UAE

Single Gene Mutation Analysis tests in Dubai & UAE

Compare available Single Gene Mutation Analysis 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

4

Listed price range

2,800.00 AED

Clinical preparation

Confirm test-specific instructions with your clinician or laboratory.

Compare available tests

Single Gene Mutation Analysis test prices

Showing 1–4 of 4 matching tests.

Single Gene Mutation Analysis diagnostic tests, details, and listed prices
Test and description Specimen Typical duration Price Options
TEST-4576
DKC1 Gene Sequencing for Hoyeraal-Hreidarsson Syndrome Test

This test detects pathogenic variants in the DKC1 gene associated with Hoyeraal-Hreidarsson syndrome.

Peripheral Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the DKC1 gene"]
Parameters
[]
Preparation
["No fasting required.", "Inform the phlebotomist of any anticoagulant or antiplatelet therapy use."]
Indications
["Suspected Hoyeraal-Hreidarsson syndrome", "Family history of Hoyeraal-Hreidarsson syndrome"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 82939-0 ICD-10: Q87.8
Clinical summary
This test detects pathogenic variants in the DKC1 gene associated with Hoyeraal-Hreidarsson syndrome.
TEST-6325
GBA Gene Gaucher Disease Type 3C Genetic Test

This test identifies mutations in the GBA gene associated with Gaucher disease type 3C.

Peripheral whole blood (EDTA), extracted DNA, or FTA card 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["GBA gene mutations", "Variant pathogenicity"]
Parameters
[]
Preparation
[]
Indications
["Confirmation of Gaucher disease type 3C diagnosis", "Carrier status determination", "Subtype classification", "Prognostic marker identification", "Guidance for therapy selection"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 61694-1 ICD-10: E75.22
Clinical summary
This test identifies mutations in the GBA gene associated with Gaucher disease type 3C.
TEST-3832
GNMT Gene Glycine N‑Methyltransferase Deficiency Genetic Test

This genetic test identifies pathogenic variants in the GNMT gene associated with glycine N‑methyltransferase deficiency.

Whole blood, extracted DNA, 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 GNMT gene", "Glycine N‑methyltransferase enzyme function"]
Parameters
[]
Preparation
["No fasting or medication hold required unless advised by doctor", "Bring detailed clinical history and pedigree chart"]
Indications
["Suspected glycine metabolism disorder", "Clarification of family history of hepatorenal disease"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 92849-0 ICD-10: E72.29
Clinical summary
This genetic test identifies pathogenic variants in the GNMT gene associated with glycine N‑methyltransferase deficiency.
TEST-4745
JAGN1 Gene Genetic Test for Severe Congenital Neutropenia Type 6 (Autosomal Recessive)

This test identifies mutations in the JAGN1 gene associated with Severe Congenital Neutropenia Type 6 (SCN6). It uses Next-Generation Sequencing (NGS) for high-coverage analysis of...

Whole Blood (EDTA), Extracted DNA, or FTA Card 3 – 4 Weeks 2,800.00 AED
View
View test specifications and preparation
What it measures
["JAGN1 gene sequence", "Mutations (including point mutations and CNVs)"]
Parameters
[]
Preparation
["No fasting required", "No special preparation needed"]
Indications
["Clinical suspicion of Severe Congenital Neutropenia Type 6", "Recurrent severe infections with neutropenia", "Family planning for individuals with SCN6"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 82168-2 ICD-10: D70.0
Clinical summary
This test identifies mutations in the JAGN1 gene associated with Severe Congenital Neutropenia Type 6 (SCN6). It uses Next-Generation Sequencing (NGS) for high-coverage analysis of the JAGN1 coding region.

Category overview

Single Gene Mutation Analysis: overview

Securing precise diagnostic confirmation for a suspected genetic trait demands a deeply focused, high-resolution analytical approach. Within our specialized Genetics services, Single Gene Mutation Analysis dives deeply into a targeted section of your DNA to identify intricate molecular changes associated with a known familial disease. Utilizing cutting-edge diagnostic technology, this precise genomic screening delivers the definitive data needed to assess your risks, safely guiding personalized preventative care and specialized medical interventions. Highly regarded for clinical excellence among top diagnostic labs in the UAE, DNA Labs guarantees absolute patient confidentiality, exceptional analytical precision, and prompt reporting for sensitive cases. Protect your long-term wellness—schedule your single gene mutation analysis in UAE, coordinate a comfortable home sample collection, or connect with our specialized genetic counselors.

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.