G6PC Gene Glycogen storage disease type 1A NGS Genetic Test
Short Name: GSD1A NGS Genetic Test
G6PC Gene Glycogen storage disease type 1A 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To identify pathogenic mutations in the G6PC gene for the definitive diagnosis of Glycogen Storage Disease Type 1A, aiding in clinical management and genetic counseling.
- Test Code
- 2026
- 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
Provide clinical history and undergo genetic counseling.
Method: Blood Collection
Laboratory Analysis
Blood sample collection via venipuncture or blood drop on FTA card.
Report Delivery
Store samples at ambient temperature and transport to lab.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the G6PC gene for the definitive diagnosis of Glycogen Storage Disease Type 1A, aiding in clinical management and genetic counseling.
How to Prepare
- Obtain informed consent
- Ensure proper labeling
- Follow aseptic techniques
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early and accurate diagnosis of GSD1A through genetic testing is vital for effective management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Contaminated sample
Understanding Your Results
If symptoms of hypoglycemia or metabolic distress are present, or after a positive test result.
Limitations
- ⚠May not detect all rare variants
- ⚠Requires genetic counseling for interpretation
- ⚠Does not assess enzyme activity
Risks & Considerations
- ●Minimal physical risk from blood draw
- ●Psychological impact of genetic diagnosis
- ●Privacy concerns with genetic data
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample collection
Frequently Asked Questions
What is the G6PC Gene Glycogen Storage Disease Type 1A NGS Genetic Test?
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How is the sample collected?
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Is home sample collection available?
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Related Tests
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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