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GYG1 Gene Glycogen storage disease type 15 NGS Genetic Test

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GYG1 Gene Glycogen storage disease type 15 NGS Genetic Test

Short Name: GYG1 GSD Type 15 Test

Also known as: GYG1-related glycogen storage disease, Glycogen storage disease type XV

GYG1 Gene Glycogen storage disease type 15 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the GYG1 gene for confirming Glycogen Storage Disease Type 15, guiding clinical management, and supporting family genetic counseling.

Test Code
2022
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Obtain detailed clinical history of the patient. Conduct a genetic counseling session to draw a pedigree chart of family members affected with Glycogen Storage Disease Type 15.

Method: Blood draw or FTA card collection

Step 2

Laboratory Analysis

Standard blood draw or collection of one drop blood on FTA card under aseptic conditions.

Step 3

Report Delivery

Label samples properly and transport to the laboratory under recommended conditions for analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended.
2
During the Test:Blood sample is collected and processed for DNA extraction and NGS analysis.
3
After the Test:Results are reviewed by geneticists and reported with clinical insights.

About This Test

Who Should Get This Test

To identify mutations in the GYG1 gene for confirming Glycogen Storage Disease Type 15, guiding clinical management, and supporting family genetic counseling.

How to Prepare

  • Provide complete clinical and family history
  • Genetic counseling is recommended prior to testing
  • Use appropriate blood collection tubes or FTA cards

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for GYG1 mutations is crucial for diagnosis, management, and family planning in suspected Glycogen Storage Disease Type 15."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or FTA card collection

Sample Stability

Blood: Store at 2-8°C for up to 24 hours
Extracted DNA: Store at -20°C for long-term stability
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Contaminated or improperly labeled samples

Understanding Your Results

Results from the GYG1 Gene NGS test indicate the presence or absence of pathogenic mutations in the GYG1 gene, which are associated with Glycogen Storage Disease Type 15.
Pathogenic variant detected: Consistent with diagnosis of GSD Type 15; correlate with clinical symptoms
No pathogenic variant detected: Unlikely GSD Type 15; consider other differential diagnoses
Variant of uncertain significance: Requires further evaluation and genetic counseling
⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms persist or worsen, for interpretation of genetic results, or for family planning and genetic counseling.

Limitations

  • ⚠May not detect all types of genetic variants (e.g., large deletions)
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Confirmatory testing may be recommended in some cases

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic test results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample handling

Compare With Similar Tests

TestGYG1 Gene Glycogen storage disease type 15 NGS Genetic Test
ComparisonGYG1 Gene Glycogen storage disease type 15 NGS Genetic Test

Frequently Asked Questions

What is GYG1 Gene Glycogen Storage Disease Type 15?
It is a rare genetic disorder caused by mutations in the GYG1 gene, affecting glycogen storage and leading to symptoms like muscle weakness and hypoglycemia.
Who should consider this genetic test?
Individuals with symptoms such as fatigue, muscle pain, enlarged liver/spleen, or a family history of glycogen storage disorders.
How is the GYG1 Gene NGS test performed?
Using Next-Generation Sequencing on a blood or DNA sample to detect mutations in the GYG1 gene.
What is the cost of the test?
The test costs INR 20,000, which includes kit, collection, analysis, and report.
Is home sample collection available?
Yes, DNA Labs India offers free home collection across many cities in India.
How long does it take to receive results?
Results are typically available within 3 to 4 weeks.
What do the test results indicate?
Results show whether pathogenic mutations are present in the GYG1 gene, confirming or ruling out Glycogen Storage Disease Type 15.
Can this test detect all types of GYG1 mutations?
While NGS is comprehensive, it may not detect all variants; clinical correlation is recommended.
Is genetic counseling required before testing?
Yes, genetic counseling is advised to understand implications and draw a family pedigree.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood collection, with potential psychological impact from results.
How accurate is the GYG1 Gene NGS test?
The test uses advanced NGS technology for high accuracy, but results should be interpreted by a healthcare professional.
Can this test be used for family screening?
Yes, it can help identify carriers or affected family members after a proband is diagnosed.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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.

LIMS Integration

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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