Now that we know more about Tay-Sachs disease as far as how it affects the body and who has a higher risk of inheriting the genetic mutation, how does one test for such a condition? Is there a test that can tell you if you have a child with Tay-Sachs? Can the test tell if a potential parent is a carrier of the disease, and if such a test exists, where can you go to have it done?
Though Tay-Sachs disease is an awful condition, fortunately there is a test available to find out if your child may have Tay-Sachs, and to also see if you’re an adult who is a carrier of the genetic mutation. It is a simple blood test that measures hexosaminidase A (hex A) enzyme levels (look at my first post on this blog to see more on how hex A relates to Tay-Sachs). The test can be done on a baby who is suspected of having Tay-Sachs, and can also be used for adults suspected of being carriers. This blood test can be done from extracting blood from a vein, the umbilical cord, amniotic fluid, and even the placenta.
A healthy baby inherits a gene from each parent that codes for the proper amount of hex A to be made. If the baby inherits only one gene that codes properly from one parent, and the other gene is mutated so that hex A is not made properly from the other parent, then that baby is said to be a carrier of the disease. An adult can go through life without ever knowing they were a carrier for Tay-Sachs, so this test would be appropriate for an adult that has had a family history of Tay-Sachs, or their partner is a carrier or has a family history, as well. This is the test recommended for potential parents who are worried about having a baby with Tay-Sachs. If a baby inherits a mutated gene from each parent who is obviously a carrier, or even affected with Late-Onset Adult Tay-Sachs, then that baby will have Tay-Sachs disease. This test would be administered if the baby begins showing signs of Tay-Sachs (please see my previous posts on this blog to read the signs and symptoms of Tay-Sachs disease in infants under 6 months old).
If you want to have this test done on you, your baby, or even your unborn infant, it is best to speak with your doctor about why you want to have it done. Also, there is a possibility your family doctor or OB/GYN can administer the test and have it sent out or tested at their lab. The prenatal test can be done around the eleventh week of pregnancy.
This is a helpful, easy test to find out if you are a carrier, or if your baby has Tay-Sachs. Secondary genetic tests are suggested if you come up positive for being a carrier, or if your baby has it, or even if you may be developing the Late-Onset Tay-Sachs disease. For more information on available tests, take a look at: http://www.webmd.com/parenting/baby/tay-sachs-test
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