Test

Molecular Genetics Pompe disease (GAA) gene analysis-NGS

₹52,500 ₹35,999
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Also Known As

GAA Gene NGS Analysis, Acid Alpha-Glucosidase Gene Sequencing, Pompe Disease Genetic Test, Glycogen Storage Disease Type II Molecular Analysis, Acid M... Read more

Test Parameters Included

GAA gene sequence analysis - identification of pathogenic/likely pathogenic variants in acid alpha-glucosidase genePathologist Molecular Genetics Rema... Read more

Department

MOLECULAR GENETICS

Methodology

NGS

Sample Required

WB EDTA

Preparation

No fasting requiredNo special preparation neededInform doctor about current medications and family history of glycogen storage diseasesSample: 2-3 mL ... Read more

Schedule Report

25 Days

Emergency Report

Yes

Frequently Asked Questions

What does the GAA gene NGS test detect?This test sequences the entire GAA gene to identify pathogenic variants causing Pompe disease (Glycogen Storage... Read more

Test Description

Molecular Genetics Pompe disease (GAA) gene analysis-NGS Examination Overview GAA gene sequencing and a GAA enzyme assay are molecular genetic tests ... Read more

Test Code

MOG165

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