GM2 Gangliosidosis Quantitative Blood Tay Sachs & Sandhoff Disease Test
Short Name: GM2 Gangliosidosis Test
Also known as: Hexosaminidase A and B Assay, Tay-Sachs Test, Sandhoff Disease Test, GM2 Gangliosidosis Enzyme Test
GM2 Gangliosidosis Quantitative Blood Tay Sachs & Sandhoff Disease Test test available at DNA Labs India for ₹3,500. Uses Enzyme Assay on Whole blood samples. Results in Report available within 4 days after sample collection.. 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 quantitatively measure hexosaminidase A and B enzyme levels in the blood for diagnosing Tay-Sachs and Sandhoff diseases, aiding in early intervention, genetic counseling, and family planning.
- Test Code
- 668
- Price
- ₹3,500
- Sample Type
- Whole blood
- Result Time
- Report available within 4 days after sample collection.
- Fasting Required
- No
- Method
- Enzyme Assay
Sample Collection
No fasting required. Provide clinical details and family history. Avoid strenuous activity before sample collection.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture into specified tubes. Minimal discomfort similar to routine blood draw.
Report Delivery
Apply pressure to puncture site to prevent bruising. Resume normal activities. Store sample as instructed.
Timeline: Report available within 4 days after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
To quantitatively measure hexosaminidase A and B enzyme levels in the blood for diagnosing Tay-Sachs and Sandhoff diseases, aiding in early intervention, genetic counseling, and family planning.
How to Prepare
- Collect 10 ml whole blood in EDTA or Sodium heparin tubes
- Ship refrigerated; do not freeze
- Ensure clinical details accompany sample
- Label tubes with patient information
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is vital for early diagnosis of GM2 gangliosidosis, enabling timely management and genetic counseling for families. Consult a pediatrician or geneticist if symptoms arise."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Incorrect tube type
- Hemolyzed or clotted sample
- Missing clinical details
Understanding Your Results
Enzyme levels within reference range, reducing likelihood of GM2 gangliosidosis.
Level: Normal
Possible Tay-Sachs disease or carrier status; confirm with genetic testing.
Level: Low Hexosaminidase A
Possible Sandhoff disease or carrier status; genetic testing recommended.
Level: Low Hexosaminidase A and B
Repeat testing or additional tests may be needed for clarity.
Level: Borderline Results
Consult a doctor if results are abnormal, symptoms persist, or for genetic counseling. Early intervention improves management outcomes.
Limitations
- ⚠Results may require confirmation with genetic testing
- ⚠Cannot distinguish between all subtypes without additional analysis
- ⚠False negatives possible in carrier cases
- ⚠Reference ranges may vary by laboratory
Risks & Considerations
- ●Minor bruising or soreness at puncture site
- ●Rare infection or dizziness
Interfering Factors
- ●Hemolyzed blood samples
- ●Certain medications or supplements
- ●Improper sample storage or handling
- ●Recent blood transfusions
Compare With Similar Tests
| Test | GM2 Gangliosidosis Quantitative Blood Tay Sachs & Sandhoff Disease Test | Genetic Mutation Analysis for HEXA/HEXB | Urine Oligosaccharide Analysis |
|---|---|---|---|
| Comparison | GM2 Gangliosidosis Quantitative Blood Tay Sachs & Sandhoff Disease Test |
Frequently Asked Questions
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