The Tay-Sachs Disease (HEXA) Gene Panel by NGS is a genetic test designed to detect mutations in the HEXA gene responsible for Tay-Sachs disease, a severe neurodegenerative disorder caused by deficiency of the enzyme Hexosaminidase A. This deficiency leads to the accumulation of GM2 gangliosides in nerve cells, resulting in progressive neurological deterioration. The test helps in confirming diagnosis, carrier screening, and prenatal or preconception genetic counselling. It is especially important for individuals with symptoms such as developmental regression, muscle weakness, seizures, vision or hearing loss, or those with a family history of the condition
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Sample Type: EDTA BLOOD
Fasting Not Required
Notes: G0149
Frequently Asked Questions (FAQ's):
What is the purpose of this test?
To identify pathogenic mutations in the HEXA gene associated with Tay-Sachs disease.
Who should undergo this test?
Symptomatic individuals, couples planning pregnancy, or relatives of known carriers.
Which sample is required?
EDTA whole blood.
How long does reporting take?
Approximately 2–4 weeks.
Is this test useful for family planning?
Yes, it helps assess carrier status and support informed reproductive decisions.