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Diagnostic options Β· UAE

Inherited Metabolic Diseases tests in Dubai & UAE

Compare available Inherited Metabolic Diseases 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

1

Listed price range

2,800.00 AED

Clinical preparation

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Inherited Metabolic Diseases test prices

Showing 1–1 of 1 matching tests.

Inherited Metabolic Diseases diagnostic tests, details, and listed prices
Test and description Specimen Typical duration Price Options
TEST-5920
NAGS Gene (N-Acetylglutamate Synthase) Deficiency Genetic Test

This genetic test identifies mutations in the NAGS gene associated with N-Acetylglutamate Synthase Deficiency, a urea cycle disorder.

Whole blood (FTA card or EDTA tube) 3 – 4 weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic mutations in the NAGS gene", "Urea cycle function"]
Parameters
[]
Preparation
["A detailed three-generation pedigree must be completed before testing", "Formal genetic counselling must be completed before testing"]
Indications
["Newborn screening for unexplained metabolic symptoms", "Family risk assessment", "Diagnosis of suspected NAGS deficiency", "Family planning for carriers"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 79353-1 ICD-10: E72.29, E72.2, Z13.79
Clinical summary
This genetic test identifies mutations in the NAGS gene associated with N-Acetylglutamate Synthase Deficiency, a urea cycle disorder.

Category overview

Inherited Metabolic Diseases: overview

Navigating the complexities of inherited enzyme deficiencies requires rapid, high-resolution diagnostic insights to prevent toxic build-ups and preserve vital organ function. Representing a critical cross-specialty offering in our Genetics and Metabolic services, testing for Inherited Metabolic Diseases evaluates your DNA for mutations that disrupt the body's fundamental energy production and waste-clearing pathways. By leveraging advanced sequencing technology, this life-saving molecular profiling provides the definitive clarity needed to confirm rare conditions like PKU, Fabry disease, or lysosomal storage disorders, safely guiding highly customized dietary therapies, essential enzyme replacement protocols, and specialized pediatric care. Trusted for sensitive rare-disease diagnostics across premier diagnostic labs in Dubai and the UAE, DNA Labs ensures strict patient confidentiality, unparalleled diagnostic precision, and remarkably fast reporting. Protect your foundational physiological healthβ€”book your inherited metabolic diseases testing in UAE, arrange a comfortable home sample collection, or connect with our expert medical genetics experts.

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.