GBE1 Gene Glycogen storage disease type 4 NGS Genetic Test
Short Name: GBE1 Gene GSD Type 4 NGS Test
Also known as: Andersen's Disease
GBE1 Gene Glycogen storage disease type 4 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 identify mutations in the GBE1 gene associated with Glycogen Storage Disease Type 4 for accurate diagnosis, risk assessment, family planning, and personalized management strategies.
- Test Code
- 2025
- 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 detailed clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with Glycogen Storage Disease Type 4.
Method: Venipuncture or capillary blood collection
Laboratory Analysis
Standard blood collection procedure by a trained phlebotomist using aseptic techniques.
Report Delivery
Sample is labeled, processed, and transported to the laboratory for analysis under controlled conditions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the GBE1 gene associated with Glycogen Storage Disease Type 4 for accurate diagnosis, risk assessment, family planning, and personalized management strategies.
How to Prepare
- No fasting required
- Use EDTA tube for blood collection or FTA card for blood drops
- Store sample at ambient room temperature before shipping
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for GSD type 4 is crucial for early intervention and genetic counseling for families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
If you or your child exhibits symptoms such as enlarged liver, poor growth, muscle weakness, or low blood sugar, or if there is a family history of glycogen storage disease.
Limitations
- ⚠May not detect all types of genetic variants, such as deep intronic mutations
- ⚠Requires clinical correlation and genetic counseling for interpretation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising, soreness, or rare infection
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Improper sample handling or storage
Frequently Asked Questions
What is Glycogen Storage Disease Type 4?
What causes GSD type 4?
What are the common symptoms of GSD type 4?
How is GSD type 4 diagnosed?
What does the GBE1 Gene NGS Genetic Test involve?
How much does the test cost in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What do the test results mean?
Can GSD type 4 be treated?
Is genetic testing necessary for family members?
How do I book the GBE1 Gene NGS Genetic Test at DNA Labs India?
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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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