GYS1 Gene Glycogen storage disease type 0 muscle NGS Genetic Test
Also known as: GSD 0 Muscle Genetic Test, GYS1 Gene Analysis for Glycogen Storage Disease Type 0
GYS1 Gene Glycogen storage disease type 0 muscle 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 diagnose Glycogen Storage Disease Type 0 caused by mutations in the GYS1 gene through next-generation sequencing, enabling accurate identification, management, and genetic counseling for affected individuals and families.
- Test Code
- 2020
- 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
No specific preparation required. Genetic counseling recommended for pre-test discussion.
Method: Blood Draw or FTA Card Spot
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist using standard aseptic techniques, or a blood spot can be placed on an FTA card.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed for stability.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Glycogen Storage Disease Type 0 caused by mutations in the GYS1 gene through next-generation sequencing, enabling accurate identification, management, and genetic counseling for affected individuals and families.
How to Prepare
- Ensure proper patient identification
- Use sterile equipment for blood draw
- Follow instructions for FTA card if applicable
- Label the sample correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for GSD 0 is crucial for accurate diagnosis, management, and family planning, especially in individuals with symptoms or family history of metabolic disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
No pathogenic variant detected
Normal finding; does not rule out other causes of symptoms. Consider clinical correlation.
Pathogenic variant identified
Confirms diagnosis of Glycogen Storage Disease Type 0. Genetic counseling and management recommended.
If symptoms such as recurrent hypoglycemia, muscle weakness, or delayed growth are present, or if there is a family history of GSD 0, consult a healthcare provider for evaluation and possible genetic testing.
Limitations
- ⚠May not detect all possible mutations in the GYS1 gene
- ⚠Limited to known pathogenic variants in genetic databases
- ⚠Cannot assess enzyme activity levels directly
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results, including anxiety or stress
- ●Potential for inconclusive results requiring further testing
Interfering Factors
- ●DNA degradation due to improper sample storage
- ●Insufficient sample volume or quality
- ●Contamination during sample collection or processing
Compare With Similar Tests
| Test | GYS1 Gene Glycogen storage disease type 0 muscle NGS Genetic Test | Liver Biopsy for GSD | Blood Glucose Monitoring Test | Genetic Counseling Session | Other Glycogen Storage Disease Genetic Panels |
|---|---|---|---|---|---|
| Comparison | GYS1 Gene Glycogen storage disease type 0 muscle NGS Genetic Test | Invasive procedure to assess glycogen storage; genetic test is non-invasive and specific. | Measures blood sugar levels; genetic test identifies underlying genetic cause. | Supportive service for interpretation and family planning; not a diagnostic test itself. | May cover multiple genes; this test is specific to GYS1 for GSD 0. |
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