HEXA Gene Tay-Sachs disease NGS Genetic Test
Short Name: HEXA Gene Tay-Sachs Test
Also known as: GM2 gangliosidosis, Hexosaminidase A deficiency
HEXA Gene Tay-Sachs disease 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 Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the HEXA Gene Tay-Sachs Disease NGS Genetic Test is to diagnose Tay-Sachs disease by identifying pathogenic mutations in the HEXA gene, determine carrier status for genetic counseling, and support early intervention and family planning decisions.
- Test Code
- 2254
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Provide clinical history of the patient, including family history of Tay-Sachs disease. A genetic counselling session is recommended to draw a pedigree chart of affected family members. No fasting is required for this test.
Method: Blood draw or FTA card collection
Laboratory Analysis
Sample collection involves a standard blood draw or using one drop of blood on an FTA card. The process is minimally invasive and typically takes a few minutes. Home collection services are available.
Report Delivery
After sample collection, ensure proper labeling and transport to the lab. Follow any additional instructions provided by the collection team. Results are available in 3 to 4 weeks.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the HEXA Gene Tay-Sachs Disease NGS Genetic Test is to diagnose Tay-Sachs disease by identifying pathogenic mutations in the HEXA gene, determine carrier status for genetic counseling, and support early intervention and family planning decisions.
How to Prepare
- Provide detailed clinical and family history before sample collection.
- Ensure the patient is comfortable and relaxed during blood draw or FTA card collection.
- Use sterile equipment and follow standard phlebotomy procedures.
- Label samples accurately with patient details and test information.
- For FTA card collection, use a single drop of blood and allow it to dry completely.
- Store samples at ambient room temperature as specified.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"As a clinical geneticist, I recommend the HEXA Gene NGS Genetic Test for early detection and carrier screening of Tay-Sachs disease, aiding in informed family planning and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Samples with insufficient volume or quality.
- Improperly labeled or unlabeled samples.
- Contaminated or hemolyzed blood samples.
- Samples not collected as per instructions or from unauthorized sources.
Understanding Your Results
No pathogenic variants detected in the HEXA gene. This suggests the individual is not affected and is not a carrier, but genetic counseling is advised for family history assessment.
Result type: Negative
Pathogenic mutations identified, indicating Tay-Sachs disease (if symptomatic) or carrier status. Consult a geneticist for detailed analysis, family risk assessment, and management options.
Result type: Positive for pathogenic variants
A variant detected that is not clearly pathogenic. Further testing or family studies may be required for clarification; genetic counseling is recommended.
Result type: Variant of uncertain significance
Consult a doctor or genetic counselor immediately if test results are positive, if there is a family history of Tay-Sachs disease, or if symptoms suggestive of Tay-Sachs disease are present. Early consultation aids in proper management and family planning.
Limitations
- ⚠This test may not detect all genetic variants in the HEXA gene, especially novel or non-coding region mutations.
- ⚠Results require interpretation by a geneticist or genetic counselor for accurate clinical correlation.
- ⚠Carrier status determination may have limitations for certain mutation types; additional testing may be recommended.
- ⚠Test does not assess other genes associated with similar neurological disorders.
Risks & Considerations
- ●Minimal risks associated with blood draw, such as bruising, infection, or discomfort.
- ●No significant risks from the genetic test itself, but psychological impact may occur from results; genetic counseling is advised.
Interfering Factors
- ●Sample quality issues such as hemolysis or degradation may affect test accuracy.
- ●Presence of inhibitors in blood or DNA samples could interfere with NGS sequencing.
- ●Technical limitations in detecting all possible HEXA gene variants; some rare mutations may not be identified.
Compare With Similar Tests
| Test | HEXA Gene Tay-Sachs disease NGS Genetic Test | HEXA Gene Carrier Screening | GM2 Gangliosidosis Panel | Lysosomal Storage Disorder Panel |
|---|---|---|---|---|
| Comparison | HEXA Gene Tay-Sachs disease NGS Genetic Test |
Frequently Asked Questions
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