PYGM Gene Glycogen storage disease type 5 NGS Genetic Test
Short Name: PYGM Gene NGS Test
Also known as: McArdle disease test, PYGM gene sequencing, Glycogen storage disease type 5 genetic test
PYGM Gene Glycogen storage disease type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the PYGM Gene NGS Genetic Test is to accurately diagnose Glycogen storage disease type 5 by detecting mutations in the PYGM gene, confirm the deficiency of myophosphorylase enzyme, guide treatment and management strategies, and provide genetic counseling for families.
- Test Code
- 2032
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Provide clinical history and family pedigree. No special preparation required, but genetic counseling is recommended.
Method: Venipuncture for blood, or use of FTA card
Laboratory Analysis
A blood sample will be collected via venipuncture, or a drop of blood on an FTA card, by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site. Sample will be transported to the lab under ambient room temperature conditions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PYGM Gene NGS Genetic Test is to accurately diagnose Glycogen storage disease type 5 by detecting mutations in the PYGM gene, confirm the deficiency of myophosphorylase enzyme, guide treatment and management strategies, and provide genetic counseling for families.
How to Prepare
- Ensure proper identification of the patient
- Use sterile equipment for blood draw
- For FTA card, apply one drop of blood and air-dry
- Label sample correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of McArdle disease allows for tailored management strategies to prevent complications and improve quality of life."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Improperly labeled or contaminated samples
- Clotted or hemolyzed blood
Understanding Your Results
Consult a geneticist or metabolic specialist if symptoms persist, family history is positive, or after receiving test results for interpretation and next steps.
Limitations
- ⚠May not detect all rare variants or deep intronic mutations
- ⚠Results require interpretation by a geneticist
- ⚠Cannot assess enzyme activity levels directly
- ⚠Limited to PYGM gene analysis only
Risks & Considerations
- ●Minimal risks from blood draw: bruising, infection, or discomfort
- ●Genetic test may reveal unexpected familial information requiring counseling
Interfering Factors
- ●Hemolyzed blood samples
- ●Degraded DNA quality
- ●Contamination during sample collection
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Frequently Asked Questions
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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