Genetic Testing for Pompe Disease: What to Expect

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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GAA Mutations Identified

Genetic testing looks for changes in genes and chromosomes that might indicate you have a genetic disease such as Pompe disease.

Genetics of Pompe disease

Pompe disease is caused by mutations in the GAA gene. These mutations lead to your cells not being able to properly make an important enzyme (acid alpha-glucosidase) that breaks down a sugar molecule called glycogen. When this enzyme does not function properly, glycogen accumulates inside cells to the point that it interferes with their function.

Doctors can use genetic testing to determine if you have mutations in the GAA gene.

If a member of your family has had a diagnosis of Pompe disease, you may want to meet with a genetic counselor to determine whether you also should be tested.

How is genetic testing done?

Your doctor will arrange for you to give a small blood sample at your local hospital or clinic. Some clinics have their own testing laboratory. However, most outsource to independent laboratories that will run the genetic test. It may take a few days to a few weeks for results to become available. The laboratory will send a report to your doctor, who will meet with you to discuss the results. He or she may want to run additional tests to confirm the diagnosis. If Pompe disease is confirmed, your doctor then will discuss treatment options with you.

Are there risks or drawbacks?

The risks of giving blood for the test are generally small. Some patients may feel dizzy or lightheaded before or during a blood draw. There is a small risk of infection or bleeding at the needle injection site.

Having a mutation in a particular gene doesn’t necessarily tell you that you will have the symptoms of the disease. It also doesn’t tell you how severe symptoms might be for you.

Some people don’t want to know that they have a genetic disease, especially if the treatment options are limited. Talking with a genetic counselor can help you decide whether you want to get a genetic test and whether the potential risks and benefits are reasonable for you.


Last updated: June 2, 2020


Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.