Pompe disease


If I have been diagnosed with Pompe disease, how can I test my family members for Pompe?

If you have Late onset Pompe disease (LOPD), there is a possibility that your full brothers and sisters also have Pompe disease. They should all be tested by either enzyme testing of the acid maltase enzyme or by testing the GAA gene for the 2 changes found in you (known mutation DNA testing). Both tests are blood tests. If your full brothers and sisters are not affected with Pompe, there is a 2 in 3 (66%) chance that they are carriers of one copy of the non-working gene and one copy of the working gene. As a carrier, they have no symptoms but can pass on the non-working gene to their children. The known mutation testing will find carriers, but the enzyme testing will not. If you want to find out who are carriers in the family, make sure to talk to your doctor about DNA known mutation testing.

For more information about genetic testing options, including panel testing, go to GeneTests.org.

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