Lab test
Tay-Sachs Disease Testing - Carrier Test
This test measures hexosaminidase A (Hex A) enzyme activity and can include HEXA gene analysis to determine whether a person has Tay-Sachs disease or is a carrier.
- Typical price
- From $1798
- Results
- 1-3 business days
- Preparation
- See preparation notes below
- Sample
- Blood draw or sample collection at a local center
About this test
This test measures hexosaminidase A (Hex A) enzyme activity and can include HEXA gene analysis to determine whether a person has Tay-Sachs disease or is a carrier. Tay-Sachs is an inherited neurodegenerative condition. Enzyme testing detects reduced activity, while genetic testing can identify specific HEXA mutations. Clinicians order it for carrier screening, diagnosis support, and family-risk assessment.
What this test measures
- Hexosaminidase A (Hex A) enzyme activity Reduced activity can indicate Tay-Sachs disease or carrier status.
- HEXA gene mutations Genetic analysis that can identify carriers and confirm an affected status.
Who this test may be right for
- People of Ashkenazi Jewish or other high-risk descent planning a pregnancy.
- Individuals with a family history of Tay-Sachs disease.
- Couples considering reproductive carrier screening.
- People with symptoms prompting evaluation for a neurodegenerative condition.
- Anyone with a partner known to be a carrier.
Before your visit
- No fasting is required for Tay-Sachs testing.
- Take usual medications unless told otherwise.
- Share family history and reproductive plans.
- A blood sample is commonly used for enzyme and genetic testing.
- Genetic counseling is advised before and after testing.
Understanding your results
Low Hex A enzyme activity can indicate carrier status or, in some patterns, an affected individual, and HEXA gene results help clarify this. Carriers usually have no symptoms but can pass the condition to a child if both partners are carriers. Because results can have family-planning implications, review them with a genetic counselor. Discuss the findings with a healthcare provider and genetic counselor.
Order this test online
- Buy online in a few minutes - no doctor's visit needed for most tests.
- Sample collection at a patient service center near you.
- Results are typically ready within 1-3 business days.
- Secure, lab-reviewed results delivered to your account.
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Questions people ask
What does the Tay-Sachs test measure?
It measures hexosaminidase A (Hex A) enzyme activity and can analyze HEXA gene mutations.
Can a carrier have normal Hex A?
Carriers typically have reduced but not absent Hex A activity, and genetic testing can help confirm carrier status.
Does this test require fasting?
No fasting is required.
Why is genetic counseling recommended for Tay-Sachs results?
Because carrier and affected results can affect family planning, counseling helps explain inheritance and options.
What does the Tay-Sachs Disease Testing - Carrier Test measure?
This blood test measures levels of hex A, determining if an individual has Tay-Sachs disease or is a carrier of the disease.
Do I need to fast before this test?
Follow the lab's instructions.
How long do results take?
Most Tay-Sachs Disease Testing - Carrier Test results are released in 1-3 business days. Specialty testing can take longer.
Is this test right for me?
This page is educational and not medical advice. Talk to a licensed healthcare provider about which tests fit your situation.
LabBookings is an independent directory. We compare test details and pricing information, but we are not a laboratory and we do not perform testing or provide medical advice. Always talk to a licensed healthcare provider about your results and treatment.
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