Molecular Genetics Pompe disease (GAA) gene analysis-NGS
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
Test Code
MOG165
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.