GM2A Gene Tay-Sachs disease AB variant NGS Genetic Test
Short Name: Tay-Sachs AB Variant NGS Test
Also known as: Tay-Sachs Genetic Test, Hexosaminidase A Deficiency Test, GM2 Gangliosidosis Test
GM2A Gene Tay-Sachs disease AB variant 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To detect pathogenic variants in the GM2A and HEXA genes for accurate diagnosis of Tay-Sachs disease AB variant, aiding in clinical management, carrier screening, and genetic counseling.
- Test Code
- 2259
- 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
Genetic counseling session recommended to discuss test implications, obtain informed consent, and prepare a family pedigree chart.
Method: Blood Draw or FTA Card Collection
Laboratory Analysis
Collection of a blood sample via venipuncture or application of blood on an FTA card by a trained professional.
Report Delivery
Sample is processed and analyzed in the laboratory using NGS technology, with results compiled into a clinical report.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic variants in the GM2A and HEXA genes for accurate diagnosis of Tay-Sachs disease AB variant, aiding in clinical management, carrier screening, and genetic counseling.
How to Prepare
- Schedule and attend a genetic counseling session prior to testing
- Ensure proper sample collection using sterile techniques and correct containers
- Label samples accurately with patient details to avoid errors
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is essential for identifying carriers and affected individuals, enabling informed decisions regarding treatment and reproductive options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume for analysis
- Improperly labeled or contaminated specimens
Understanding Your Results
Positive
Pathogenic variants detected, indicative of Tay-Sachs disease AB variant or carrier status. Consult a geneticist for further evaluation, management, and family planning options.
Negative
No pathogenic variants detected in the tested genes. However, clinical symptoms may still warrant further investigation or alternative diagnoses.
Variant of Uncertain Significance
Genetic variant identified but not conclusively linked to disease. Genetic counseling and possible additional testing recommended.
Consult a healthcare provider or genetic counselor if test results are positive, if there is clinical suspicion despite negative results, or for guidance on treatment and family planning.
Limitations
- ⚠May not detect all possible genetic variants or mutations
- ⚠Results require correlation with clinical findings and family history
- ⚠Not a substitute for comprehensive genetic counseling
Risks & Considerations
- ●Psychological impact of genetic results on individuals and families
- ●Privacy and confidentiality concerns regarding genetic data
- ●Potential for inconclusive or uncertain results requiring further testing
Interfering Factors
- ●Poor sample quality or degradation
- ●Contamination during sample collection or handling
- ●Technical errors in sequencing or analysis
Frequently Asked Questions
What is Tay-Sachs disease AB variant?
How does this NGS genetic test differ from standard Tay-Sachs tests?
Who should consider taking this genetic test?
What sample is required for this test?
How long does it take to get the test results?
Is home sample collection available for this test?
What is the cost of the GM2A Gene Tay-Sachs disease AB variant NGS Genetic Test?
How accurate is the NGS genetic test for Tay-Sachs AB variant?
What are the risks associated with this genetic test?
Can this test be used for carrier screening?
What should I do if the test results are positive?
Is genetic counseling provided with this test?
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