HEXB Gene GM2-gangliosidosis type 2 NGS Genetic Test
Short Name: HEXB Gene GM2 Test
Also known as: Sandhoff disease
HEXB Gene GM2-gangliosidosis type 2 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. 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 pathogenic variants in the HEXB gene for diagnosis of GM2-gangliosidosis type 2, guide clinical management, and provide genetic counseling for affected families.
- Test Code
- 2060
- 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
- NGS Technology
Sample Collection
Provide clinical history of the patient and undergo genetic counseling to draw a pedigree chart of affected family members. No fasting required.
Method: Venipuncture for blood; saliva collection alternative
Laboratory Analysis
Sample collection via venipuncture (blood) or saliva kit. Procedure is minimally invasive.
Report Delivery
Sample is sent to the lab for DNA extraction and NGS sequencing. Report delivered in 3-4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic variants in the HEXB gene for diagnosis of GM2-gangliosidosis type 2, guide clinical management, and provide genetic counseling for affected families.
How to Prepare
- Ensure proper identification and labeling of samples
- Follow aseptic techniques for blood collection
- Store samples at ambient temperature as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of GM2-gangliosidosis type 2 is essential for timely intervention and family counseling. NGS testing provides comprehensive mutation analysis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Improperly labeled or contaminated samples
- Hemolyzed or clotted blood specimens
Understanding Your Results
Consult a genetic specialist or neurologist immediately upon receiving positive results for comprehensive management and family planning advice.
Limitations
- ⚠May not detect all possible mutations due to technical limitations
- ⚠Results require interpretation by a genetic specialist
- ⚠Cannot assess enzyme activity levels directly
Risks & Considerations
- ●Minimal risk from blood draw: bruising, infection, or discomfort
- ●Psychological impact of genetic diagnosis
Interfering Factors
- ●Degraded DNA from improper sample storage
- ●Hemolyzed or contaminated blood samples
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | HEXB Gene GM2-gangliosidosis type 2 NGS Genetic Test | HEXA Gene Tay-Sachs Disease NGS Test | Lysosomal Storage Disorders Panel | Whole Exome Sequencing (WES) | Enzyme Assay for Beta-Hexosaminidase |
|---|---|---|---|---|---|
| Comparison | HEXB Gene GM2-gangliosidosis type 2 NGS Genetic Test |
Frequently Asked Questions
What is GM2-gangliosidosis type 2?
How is the HEXB gene test performed?
What symptoms indicate the need for this test?
What is the cost of the test in India?
Is home sample collection available?
How long does it take to get results?
Is fasting required before the test?
Can the test be performed on children?
What should I do before getting tested?
How accurate is the NGS test?
Is genetic counseling included?
What raw data files are provided?
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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.
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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