Tay-Sachs carrier screening, Tay-Sachs prenatal testing, Tay-Sachs disease DNA analysis
This test looks for specific gene changes in a sample of your blood. If you are already pregnant, the test looks at a sample of the fetus' blood. These gene changes (mutations) cause most cases of Tay-Sachs disease.
Tay-Sachs disease is caused by a lack of a vital enzyme, Hex A (hexosaminidase-A). This can cause a fatty substance called GM2 ganglioside to build up in cells, especially in brain cells.
Symptoms of the disease start when the child is a baby. Babies who have Tay-Sachs develop trouble moving, seizures, and blindness. Children with the disease typically die before age 5. There is no cure or effective treatment for Tay-Sachs disease.
This DNA test can find out whether parents or potential parents are carriers of the disease. It can also be used to see if a fetus has the condition.
Anyone can be a carrier, but the disease is more common in people of Eastern European Jewish (Ashkenazi) descent. This means they have gene mutations that can cause the disease in a child. About one in 27 American Jews is a carrier. If both parents are carriers, a child has a 1 in 4 chance of getting the disease. The child has a 1 in 2 chance of being a carrier. Carriers do not have symptoms of the disease. Carriers can pass the defective gene to their own children.
This DNA test checks for 3 or more specific gene changes. Testing can identify nearly all carriers.
Before having this test, discuss your family background with your healthcare provider or a genetic counselor. This will help find out which type of testing you and your partner should have.
You may have this test to check whether you are a Tay-Sachs carrier. If you are pregnant, both you and your partner can be tested. If both you and your partner are known carriers, DNA testing can diagnose Tay-Sachs disease in the fetus.
Your healthcare provider may also order blood tests to measure Hex A and Hex B enzymes. These tests find out whether you are a carrier.
Your provider may also order screening for cystic fibrosis, Canavan disease, and familial dysautonomia. This is especially true if you are of Ashkenazi Jewish descent.
If you are not of Ashkenazi Jewish descent, your healthcare provider may also order a screening test for an additional DNA mutation that has been linked to Tay-Sachs in other groups.
Many things may affect your lab test results. These include the method each lab uses to do the test. Even if your test results are different from the normal value, you may not have a problem. To learn what the results mean for you, talk with your healthcare provider.
Normal results are negative. This means no gene mutations were found. It means you aren't a carrier for Tay-Sachs disease. A positive result means that the gene mutations were found and that you are a carrier.
Normal results for prenatal testing are negative. This means no gene mutations were found. It means your fetus does not have Tay-Sachs disease. A positive result means that the gene mutations have been found and that your fetus does have the disease. A genetic counselor or your healthcare provider can discuss what these results mean for you and your child.
For carrier screening, the test requires a blood sample, which is drawn through a needle from a vein in your arm.
Testing the fetus during pregnancy requires one of these procedures:
Amniocentesis. The healthcare provider takes a sample of amniotic fluid from around the baby.
Chorionic villus sampling. The healthcare provider takes a sample of cells from the placenta.
Taking a blood sample with a needle carries risks that include bleeding, infection, bruising, or feeling dizzy. When the needle pricks your arm, you may feel a slight stinging sensation or pain. Afterward, the site may be slightly sore.
Risks from amniocentesis include:
Cramping and vaginal bleeding
Amniotic fluid leakage
Infections such as hepatitis or HIV spreading from you to your fetus
Slight risk of miscarriage
Risks from chorionic villus sampling include:
Leaking of fetal blood into your bloodstream. This may cause problems in later pregnancies.
The test is not 100% accurate, so you may have a false-negative result. This means you are a carrier even though the test results came back negative.
You don't need to prepare for the blood test. If you are having an amniocentesis or chorionic villus sampling procedure, you may need to avoid sex or exercise on the day of the test.