GYS2 Gene Glycogen storage disease type 0 NGS Genetic Test
Short Name: GYS2 GSD Type 0 NGS Test
Also known as: GSD Type 0 Genetic Test, GYS2 Mutation Analysis, Glycogen Synthase 2 Gene Test
GYS2 Gene Glycogen storage disease type 0 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 Results are typically available within 3 to 4 weeks after sample receipt.. 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 this test is to definitively diagnose Glycogen Storage Disease Type 0 by identifying pathogenic mutations in the GYS2 gene using next-generation sequencing, enabling accurate clinical management and genetic counseling.
- Test Code
- 2021
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Glycogen Storage Disease Type 0 are required before sample collection.
Method: Venipuncture or Cheek Swab
Laboratory Analysis
Sample collection involves a standard venipuncture for blood or a cheek swab for DNA, performed by a trained phlebotomist. The process is quick and minimally invasive.
Report Delivery
After collection, the sample is labeled, stored at ambient room temperature, and transported to the laboratory for NGS analysis. Patients can resume normal activities immediately.
Timeline: Results are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to definitively diagnose Glycogen Storage Disease Type 0 by identifying pathogenic mutations in the GYS2 gene using next-generation sequencing, enabling accurate clinical management and genetic counseling.
How to Prepare
- Fasting is not required
- Ensure proper identification of the patient
- Use sterile collection tubes or FTA cards
- Avoid hemolysis during blood draw
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a clinical geneticist, I recommend the GYS2 Gene NGS test for accurate diagnosis of Glycogen Storage Disease Type 0, enabling early intervention and personalized management to prevent metabolic complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrectly labeled or unlabeled samples
- Insufficient sample volume
- Contaminated samples
Understanding Your Results
Pathogenic Variant Detected
Confirms diagnosis of GSD Type 0; management and family screening recommended.
Likely Pathogenic Variant Detected
High probability of GSD Type 0; clinical correlation and genetic counseling advised.
Variant of Uncertain Significance (VUS)
Further testing or family studies may be needed; periodic re-evaluation recommended.
No Pathogenic Variants Detected
GSD Type 0 unlikely based on this gene; consider other metabolic disorders or clinical assessment.
Benign Variant Detected
Variant not associated with disease; no clinical action required.
Consult a doctor or genetic specialist if the patient shows symptoms like recurrent hypoglycemia, failure to thrive, or liver enlargement, or if there is a family history of glycogen storage diseases. Positive test results require immediate medical guidance for management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or rearrangements
- ⚠Variants of uncertain significance may require further evaluation
- ⚠Results must be interpreted in conjunction with clinical history and family pedigree
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Very rare risk of infection or fainting
- ●Psychological impact of genetic results requiring counseling
Interfering Factors
- ●Sample contamination or degradation
- ●Hemolyzed blood samples
- ●Insufficient DNA quantity or quality
- ●Recent blood transfusion affecting DNA analysis
Compare With Similar Tests
| Test | GYS2 Gene Glycogen storage disease type 0 NGS Genetic Test | Blood Glucose Test | Enzyme Activity Assay | Liver Biopsy | Glucose Tolerance Test |
|---|---|---|---|---|---|
| Comparison | GYS2 Gene Glycogen storage disease type 0 NGS Genetic Test |
Frequently Asked Questions
What is Glycogen Storage Disease Type 0?
How is GSD Type 0 inherited?
What are the common symptoms of GSD Type 0?
How is the GYS2 Gene NGS Test performed?
What is the cost of this genetic test?
Is home sample collection available for this test?
How long does it take to get the test results?
What do the test results indicate?
Is genetic counseling necessary before and after the test?
Can this test be used for prenatal diagnosis?
What are the risks associated with this genetic test?
How accurate is NGS for detecting GYS2 mutations?
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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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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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