Mid-Atlantic · Tay-Sachs Disease Testing – Carrier Test
Tay-Sachs Disease Testing – Carrier Test in Pennsylvania
Tay-Sachs Disease Testing – Carrier Test can be ordered without a referral, and this guide covers what to expect. This test can help determine if you are a carrier for Tay-Sachs disease or if you have the condition.
What this test is
Tay-Sachs disease is a rare genetic disorder that causes a fatty substance to build up in nerve cells in the brain. This test analyzes your blood to check for the presence of the gene mutation responsible for the disease.
What it measures
- Hexosaminidase A (Hex A) — measures the activity of an enzyme related to Tay-Sachs disease
What the test involves
A sample is collected through a standard blood draw from a vein in your arm.
Why it is often ordered
A clinician may order this test if you have a family history of Tay-Sachs disease or if you are planning to have a child. It is often used to assess the risk of passing the condition to offspring.
Preparation
No special preparation is typically required for this test. Please follow any specific instructions provided by the laboratory where your sample will be collected.
How results are reported
Results are usually available within a few business days and will indicate if you are a carrier, affected, or have no detectable mutation. Reference ranges can vary between laboratories.
Before you go
- Turnaround time
- Fasting requirements
- Specimen collection details
Cities
Tay-Sachs Disease Testing – Carrier Test in Pennsylvania communities
Choose your city for local context and to request this test.