MCARDLE DISEASE (PYGM) GENE PANEL BY NGS, EDTA BLOOD

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The McArdle Disease (PYGM) Gene Panel by NGS is a specialized genetic test used to detect mutations in the PYGM gene associated with McArdle disease, a metabolic muscle disorder affecting glycogen breakdown. Symptoms may include exercise intolerance, muscle pain, fatigue, and recurrent muscle cramps. This test is performed using an EDTA blood sample and advanced Next Generation Sequencing technology for high accuracy. Metropolis Healthcare provides precise and dependable results to support early diagnosis, clinical management, and genetic counseling

  • 17 Crores+ Samples Processed
  • World Class Technology Labs
  • 25+ Years of Trust & Experience
  • Free Home Collection

Price: Rs. 19,950.00

Sample Type: EDTA BLOOD

Fasting Not Required


Notes: G0126

Frequently Asked Questions (FAQ's):

What is McArdle disease?
It is a genetic muscle disorder caused by impaired energy production due to mutations in the PYGM gene.

Why is the PYGM gene tested?
The PYGM gene mutation is the primary cause of McArdle disease, making genetic testing essential for confirmation.

How does Metropolis Healthcare perform this test?
Metropolis Healthcare uses advanced NGS technology to analyze the PYGM gene and detect disease-causing variants.

What sample type is required for this test?
An EDTA blood sample is required.

Who should consider this test?
Individuals with muscle fatigue, inability to perform strenuous activity, exercise-induced cramps, or a family history of McArdle disease may benefit from testing.

Is any preparation needed?
No fasting or special preparation is needed prior to sample collection.

How long do results take at Metropolis Healthcare?
Results are usually available within a few working days depending on laboratory workflow.

How will the results help?
They support diagnosis, enable better management of activity and lifestyle, and assist in genetic counseling for affected families

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