Beta Hexosaminidase A GM2-1/ Tay-Sachs test - Blood

This test measures the levels of Beta Hexosaminidase A enzyme in your blood.

• To diagnose Tay-Sachs disease
• To determine if you are a carrier for Tay-Sachs disease
• To assess the progression of Tay-Sachs disease
• To evaluate the effectiveness of treatment for Tay-Sachs disease

This test may be recommended if you

• show symptoms of Tay-Sachs disease such as developmental delays, muscle weakness, or seizures,
• have a family history of Tay-Sachs disease, or
• are planning to have children and want to determine if you are a carrier for Tay-Sachs disease.

Abnormal results may indicate Tay-Sachs disease or other conditions affecting the enzyme levels.

A healthcare professional will draw a blood sample from your vein. The sample will be sent to a laboratory for analysis.

• Avoid excessive physical activity before the test.
• Your doctor may provide additional instructions based on your specific situation.
• Inform your doctor if you have any specific requirements.

• Genetic testing for Tay-Sachs disease
• Hexosaminidase B test

Tay-Sachs enzyme activity test

Tay-Sachs disease is a rare genetic disorder that affects the nerve cells in your brain and spinal cord. It is characterised by the progressive loss of motor and mental abilities. The disease usually becomes apparent in infancy or early childhood.