Pompe Disease tests in Dubai & UAE

Compare available Pompe 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

Confirm test-specific instructions with your clinician or laboratory.

Compare available tests

Pompe Disease test prices

Showing 1–1 of 1 matching tests.

Pompe Disease diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-5578 GAA Gene Genetic Test for Pompe Disease (E74.02) This test analyzes the entire coding region and splice-site junctions of the GAA gene to identify mutations associated with Pompe disease.	Whole Blood (Peripheral) – 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 GAA gene", "Point mutations", "Small insertions/deletions", "Larger structural variants"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Suspected Pompe disease based on clinical symptoms", "Family history of Pompe disease", "Carrier screening", "Prenatal diagnosis", "Confirmation of enzyme activity test results"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: E74.02 Clinical summary This test analyzes the entire coding region and splice-site junctions of the GAA gene to identify mutations associated with Pompe disease.

Category overview

Pompe Disease: overview

Confronting unexplained muscle weakness or respiratory difficulties in a newborn or adult demands urgent, highly specific diagnostics to ensure the most effective specialized care. Representing an elite subspecialty in our Genetics department, Pompe Disease testing analyzes the GAA gene to detect mutations that cause harmful glycogen buildup in the body's cells. By utilizing advanced diagnostic technology, this vital molecular screening helps confirm this rare metabolic disorder, providing the definitive data necessary to safely guide life-changing enzyme replacement therapies and specialized medical management. Highly regarded for sensitive genetic diagnostics among diagnostic labs in Dubai and the UAE, DNA Labs ensures strict patient confidentiality, unparalleled diagnostic accuracy, and highly efficient reporting. Secure the critical diagnostic insights your family deserves—book your Pompe disease testing in UAE, arrange a secure sample collection, or connect with our specialized 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.