Tay-Sachs Disease Testing

The Tay-Sachs Disease Test is a blood test used to determine whether an individual is affected by or is a carrier of Tay-Sachs disease. Tay-Sachs is a rare inherited genetic disorder that prevents the body from properly breaking down certain fatty substances called gangliosides. When these substances accumulate in nerve cells, particularly in the brain and spinal cord, they cause progressive neurological damage.

Tay-Sachs disease results from a deficiency of an enzyme called hexosaminidase A (Hex A). Without sufficient Hex A activity, toxic buildup occurs in the central nervous system. The most severe form begins in infancy and can lead to developmental regression, muscle weakness, and significant neurological impairment.

This test measures the level of Hex A enzyme activity in the blood. Reduced or absent enzyme activity may indicate Tay-Sachs disease, while intermediate levels may suggest carrier status. Carriers typically do not show symptoms but can pass the condition to their children.

This enzyme test can also help identify Sandhoff disease, a related condition in which the body cannot produce either Hex A or Hex B enzymes. Early detection and carrier identification are especially important for family planning and genetic counseling.

What Is Included In This Test?

This test includes:

• Measurement of hexosaminidase A (Hex A) enzyme activity
• Determination of affected or carrier status
• Enzyme analysis to support diagnosis of Tay-Sachs disease
• Screening for related enzyme deficiency such as Sandhoff disease
• Clear laboratory results for clinical interpretation

This is an enzyme activity test and does not directly analyze DNA.

Why Does This Test Matter?

Tay-Sachs disease is inherited in an autosomal recessive pattern, meaning a child must inherit a defective gene from both parents to be affected. If both parents are carriers, each pregnancy carries a 25% chance of having a child with the disease.

Carrier screening is especially important in high-risk populations, including individuals of Ashkenazi Jewish descent, where carrier frequency is higher. Identifying carrier status allows couples to make informed reproductive decisions and consider genetic counseling.

Early diagnosis in affected individuals allows families to access appropriate medical care, support services, and specialized monitoring. While there is currently no cure, early identification provides clarity and helps families plan for the future.

Understanding enzyme activity levels empowers individuals with essential information about their genetic health and reproductive risk.

Who Should Consider This Test?

You may consider this test if you:

• Have a family history of Tay-Sachs disease
• Are of Ashkenazi Jewish descent
• Are planning a pregnancy
• Have a partner who is a known Tay-Sachs carrier
• Are seeking preconception genetic screening
• Have had an abnormal newborn screening result
• Have a child with developmental regression
• Want carrier screening for inherited disorders
• Are undergoing fertility treatment
• Are seeking genetic counseling

Convenient, No-Appointment Testing

To complete your test:

1. Order online through our website
2. Use the lab locator to find a nearby testing location
3. Walk in; no appointment required
4. Access your results securely in your HealthLabs.com account within one to three business days

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