PYGL Gene Glycogen storage disease type 6B NGS Genetic Test
Short Name: PYGL GSD Type 6B NGS Test
Also known as: Hers Disease, GSD Type VIb, Liver Glycogen Phosphorylase Deficiency
PYGL Gene Glycogen storage disease type 6B 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 from 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
To diagnose Glycogen Storage Disease Type 6B caused by mutations in the PYGL gene, enabling early intervention and family genetic counseling.
- Test Code
- 2033
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and family pedigree chart as per pre-test information.
Method: Venipuncture or FTA card spotting
Laboratory Analysis
Blood sample will be drawn by a trained phlebotomist using a sterile needle.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Avoid strenuous activity for a few hours.
Timeline: 3 to 4 Weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Glycogen Storage Disease Type 6B caused by mutations in the PYGL gene, enabling early intervention and family genetic counseling.
How to Prepare
- Ensure proper labeling of samples
- Transport samples at room temperature or as specified
- Follow instructions for FTA card usage if applicable
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is essential for early diagnosis and management of hereditary metabolic disorders like GSD Type 6B, especially in families with a history of symptoms."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrectly labeled or contaminated samples
Understanding Your Results
Positive
Pathogenic variant detected, confirming diagnosis of GSD Type 6B.
Action: Consult a geneticist for management and family testing.
Negative
No pathogenic variant detected in the PYGL gene.
Action: Consider other genetic or metabolic causes if symptoms persist.
Variant of uncertain significance
A genetic variant with unknown clinical impact.
Action: Further testing and clinical correlation recommended.
If you or your child experiences symptoms such as persistent low blood sugar, enlarged liver, muscle weakness, or delayed growth, consult a healthcare professional for evaluation and testing.
Limitations
- ⚠May not detect all genetic variants or mosaicism
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Possible discomfort at puncture site
Interfering Factors
- ●Sample contamination
- ●Insufficient DNA quality or quantity
- ●Recent blood transfusion
Compare With Similar Tests
| Test | PYGL Gene Glycogen storage disease type 6B NGS Genetic Test | GSD Type 1 Genetic Test | GSD Type 3 Genetic Test | Comprehensive Metabolic Panel |
|---|---|---|---|---|
| Comparison | PYGL Gene Glycogen storage disease type 6B NGS Genetic Test |
Frequently Asked Questions
What is PYGL Gene Glycogen Storage Disease Type 6B?
What are the symptoms of GSD Type 6B?
How is GSD Type 6B diagnosed?
What is the cost of the PYGL Gene NGS Genetic Test?
Is home sample collection available for this test?
How long does it take to get the test results?
What does a positive test result mean?
Are there any risks associated with this genetic test?
Can this test be performed on children?
Is genetic counseling provided with the test?
What is the treatment for GSD Type 6B?
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