Molecular Genetics McArdle disease ( PYGM ) gene analysis - NGS
Also Known As
PYGM Gene Sequencing, McArdle Disease Genetic Test, Glycogen Storage Disease Type V Molecular Analysis, Muscle Glycogen Phosphorylase Gene Test, Glyco... Read more
Test Parameters Included
PYGM Gene Sequence Analysis (c.509C>T, c.146C>T, c.844G>A and other variants) - NGS-based detection of pathogenic variantsPathologist Molecular Geneti... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
For a molecular genetics test to diagnose McArdle disease, which analyzes mutations in the PYGM gene, fasting is generally not required as the test is... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What is McArdle disease?McArdle disease (Glycogen Storage Disease Type V) is a rare inherited metabolic disorder caused by mutations in the PYGM gene,... Read more
Test Description
Test Code
MOG332
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.