Glycogen Storage Disease tests in Dubai & UAE

Compare available Glycogen Storage Disease 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

Listed price range

2,800.00 AED

Clinical preparation

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Glycogen Storage Disease test prices

Showing 1–3 of 3 matching tests.

Glycogen Storage Disease diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-6343 GAA Gene Glycogen Storage Disease Type II (Pompe Disease) Genetic Test This genetic test identifies pathogenic variants within the GAA gene, confirming a diagnosis of Glycogen Storage Disease Type II (Pompe disease).	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 ["Pathogenic variants in the GAA gene"] Parameters [] Preparation ["A detailed clinical history and genetic counselling session is mandatory before sample collection."] Indications ["Suspected Pompe disease based on clinical symptoms", "Family history of Pompe disease", "Carrier screening", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 81258-5 ICD-10: E74.02, E74.0 Clinical summary This genetic test identifies pathogenic variants within the GAA gene, confirming a diagnosis of Glycogen Storage Disease Type II (Pompe disease).
TEST-6384 PGAM2 Gene Glycogen Storage Disease Type 10 Genetic Test This genetic test sequences the PGAM2 gene to identify mutations causing Glycogen Storage Disease Type 10 (GSD X), a metabolic myopathy.	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 PGAM2 gene", "Muscle phosphoglycerate mutase deficiency"] Parameters [] Preparation ["No fasting or special dietary preparation is necessary.", "Maintain current medication regimen unless directed otherwise by physician.", "Mandatory pre-test genetic counseling session required."] Indications ["Suspected Glycogen Storage Disease Type 10", "Exercise-induced myopathy", "Recurrent myoglobinuria"] Measurement technique Confirm with laboratory Codes LOINC: 98416-6 ICD-10: E74.09 Clinical summary This genetic test sequences the PGAM2 gene to identify mutations causing Glycogen Storage Disease Type 10 (GSD X), a metabolic myopathy.
TEST-6370 PHKB Gene Glycogen Storage Disease Type 9B Genetic Test This test identifies pathogenic variants in the PHKB gene associated with Glycogen Storage Disease Type 9B.	Peripheral Whole Blood	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 PHKB gene"] Parameters [] Preparation [] Indications ["Suspected Glycogen Storage Disease Type 9B", "Family history of GSD IXB", "Need for definitive diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 94023-4 ICD-10: E74.0, Z15.89, Z84.89 Clinical summary This test identifies pathogenic variants in the PHKB gene associated with Glycogen Storage Disease Type 9B.

Category overview

Glycogen Storage Disease: overview

Navigating unexplained episodes of severe low blood sugar, profound muscle weakness, or an enlarged liver in a child demands rapid, highly specific diagnostic intervention. Within our advanced Genetics and Metabolic departments, testing for Glycogen Storage Disease (GSD) evaluates your DNA for inherited enzyme deficiencies that prevent the body from properly storing or breaking down glycogen for energy. By leveraging state-of-the-art diagnostic technology, this life-saving molecular screening provides the definitive clarity needed to safely guide immediate, highly customized dietary therapies, continuous glucose monitoring, and specialized pediatric metabolic management. Widely respected for sensitive rare-disease diagnostics among top diagnostic labs in the UAE, DNA Labs ensures absolute patient confidentiality, uncompromising diagnostic accuracy, and incredibly fast turnaround times. Safeguard your child's physiological health—book your glycogen storage disease testing in UAE, arrange a secure clinical sample collection, or consult our expert pediatric specialists today.

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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.