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Molecular Genetics McArdle disease ( PYGM ) gene analysis - NGS

₹52,500 ₹32,999
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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

Molecular Genetics McArdle Disease (PYGM) Gene Analysis – NGS Examination A molecular genetics test for McArdle disease, also known as glycogen stora... Read more

Test Code

MOG332

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