PGAM2 Gene Glycogen storage disease type 10 NGS Genetic Test
Short Name: PGAM2 Gene GSD Type 10 Test
Also known as: Glycogen Storage Disease Type 10, PGAM2 Deficiency, GSD Type 10
PGAM2 Gene Glycogen storage disease type 10 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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
To identify pathogenic mutations in the PGAM2 gene for accurate diagnosis of glycogen storage disease type 10, enabling appropriate clinical management and genetic counseling.
- Test Code
- 2016
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counseling and clinical history assessment required. A pedigree chart of affected family members should be drawn.
Method: Venipuncture or FTA card drop
Laboratory Analysis
Blood sample collected via venipuncture or FTA card drop by a trained phlebotomist.
Report Delivery
Samples are labeled and transported to the laboratory for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the PGAM2 gene for accurate diagnosis of glycogen storage disease type 10, enabling appropriate clinical management and genetic counseling.
How to Prepare
- Provide detailed clinical history and family pedigree chart
- Ensure sample collection in EDTA tube or FTA card
- Label samples correctly with patient information
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for PGAM2 deficiency is essential for accurate diagnosis and management of glycogen storage disease type 10. Early intervention can prevent complications and improve quality of life."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or missing documentation
Understanding Your Results
Positive for pathogenic variant
Diagnosis of PGAM2 deficiency confirmed; clinical correlation and management recommended
Negative
No pathogenic variants detected; but if symptoms persist, further testing may be needed
Variant of uncertain significance
Genetic counseling advised to discuss implications and family testing
If experiencing symptoms of glycogen storage disease, such as muscle weakness, hypoglycemia, or enlarged liver/heart, or if there is a family history of metabolic disorders.
Limitations
- ⚠May not detect all mutation types, such as large deletions or duplications
- ⚠Variants of uncertain significance may be identified, requiring further evaluation
Risks & Considerations
- ●Minor bruising or discomfort at the needle site
- ●Rare risk of infection or fainting during blood draw
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed samples
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.
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