Genetic testing for Tay-Sachs disease allows people to find out if they have an increased chance of having a child with the disease. A genetic test looks for abnormal genes in a DNA sample from a person's cells.
Tay-Sachs is a rare disease that is passed down through some families. A person with Tay-Sachs has changed genes that don't make any or enough of an enzyme that breaks down fatty compounds. Without it, fatty compounds build up in the brain and nerve cells and cause damage. Tay-Sachs is fatal. And there is no cure.
The choice to have the test for Tay-Sachs disease is a personal one. You may want to be tested if you are concerned that you or your partner might be carriers of Tay-Sachs. If you and your partner are carriers, you may pass the disease on to your children. This may happen even though neither of you has the disease. This may be likely if either of you has a family member who has it. You may choose to be tested if you are pregnant and the test results will affect your decision whether to continue your pregnancy. Or the test results can help you make choices about the care of your newborn child.
Genetic test results may have ethical, religious, or legal impact. Before you get tested, you should know what you will do with the results. To help with this, see a genetic counsellor before you make a choice about testing. He or she can explain the test and its results clearly. It can help you make good decisions.
Genetic counselling is guidance from someone who is trained to help you understand the risk of having a child with a genetic disease such as Tay-Sachs. You may talk about:
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Current as of: October 13, 2016
Adam Husney, MD - Family Medicine
& Martin J. Gabica, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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