PRKAG2 Gene Glycogen storage disease of heart (lethal) NGS Genetic Test
Short Name: PRKAG2 Cardiac GSD NGS Test
Also known as: Cardiac glycogen storage disease, PRKAG2-related cardiac disorder, Lethal glycogen storage heart disease
PRKAG2 Gene Glycogen storage disease of heart (lethal) 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
The purpose of the PRKAG2 Gene Glycogen Storage Disease of Heart NGS Genetic Test is to detect mutations in the PRKAG2 gene that cause glycogen storage disease affecting the heart. This test aids in accurate diagnosis, risk assessment, and early intervention to prevent life-threatening complications like sudden cardiac death. It supports genetic counseling and family planning decisions.
- Test Code
- 2017
- 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 recommended to discuss implications and obtain informed consent. Provide clinical history and family pedigree chart.
Method: Venipuncture
Laboratory Analysis
Standard blood draw procedure or collection of one drop blood on FTA card. Ensure proper sample labeling.
Report Delivery
Apply pressure to the puncture site. Store samples appropriately for transport to the laboratory.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PRKAG2 Gene Glycogen Storage Disease of Heart NGS Genetic Test is to detect mutations in the PRKAG2 gene that cause glycogen storage disease affecting the heart. This test aids in accurate diagnosis, risk assessment, and early intervention to prevent life-threatening complications like sudden cardiac death. It supports genetic counseling and family planning decisions.
How to Prepare
- Avoid eating or drinking for a few hours before if required by physician
- Bring medical records and family history information
- Wear loose clothing for easy blood collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for PRKAG2 mutations is vital to prevent sudden cardiac death in at-risk individuals. Consult a cardiologist or geneticist for evaluation and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Improperly labeled samples
- Contaminated samples
Understanding Your Results
Mutation Detected
Confirmed diagnosis of PRKAG2 gene glycogen storage disease. Immediate consultation with a cardiologist or genetic specialist is recommended for management and monitoring.
No Mutation Detected
PRKAG2 gene mutation not found. Consider other genetic or non-genetic causes of symptoms. Clinical evaluation and additional testing may be needed.
If experiencing symptoms like shortness of breath, irregular heartbeat, fainting, or if there is a family history of glycogen storage disease or sudden cardiac death. Consult immediately for genetic testing and management.
Limitations
- ⚠Test only analyzes PRKAG2 gene
- ⚠May not detect all types of mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw (bruising, infection)
- ●Emotional impact of genetic results
- ●Possible need for further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Recent blood transfusion
Compare With Similar Tests
| Test | PRKAG2 Gene Glycogen storage disease of heart (lethal) NGS Genetic Test | Glycogen Storage Disease Panel Test | Cardiac Genetics Panel |
|---|---|---|---|
| Comparison | PRKAG2 Gene Glycogen storage disease of heart (lethal) NGS Genetic Test |
Frequently Asked Questions
What is PRKAG2 Gene Glycogen Storage Disease of Heart?
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