Price:
Rs. 19,950.00
Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0137
Frequently Asked Questions (FAQ's):
What does the GAA Gene Panel for Pompe disease include at Metropolis Healthcare?
It includes targeted sequencing of the GAA gene to identify pathogenic mutations associated with infantile and late-onset Pompe disease.
How does Metropolis Healthcare perform this genetic test?
Metropolis Healthcare utilizes high-precision NGS platforms and expert bioinformatics analysis to ensure accurate variant detection from an EDTA blood sample.
Who should take this test at Metropolis Healthcare?
Individuals with progressive muscle weakness, heart enlargement, breathing difficulties, or family members of diagnosed patients should consider testing.
What sample is required for this test at Metropolis Healthcare?
An EDTA blood sample is needed for DNA extraction and sequencing.
How long does Metropolis Healthcare take to provide results?
Test reports are generally available within several working days depending on sequencing complexity.
Can this test support treatment decisions?
Yes, Metropolis Healthcare provides detailed mutation insights that assist clinicians in planning enzyme replacement therapy and other management strategies.
Does Metropolis Healthcare offer genetic counseling for Pompe disease?
Yes, expert genetic counseling is available to explain test results, inheritance patterns, and family screening recommendations.
Is fasting needed before providing the sample at Metropolis Healthcare?
No fasting is required; the sample can be given at any convenient time