Pompe Testing Programs

Free testing for Pompe disease is available through two Pompe Testing Programs;

MDA Pompe Testing Program

The Muscular Dystrophy Association (MDA) has partnered with Genzyme to provide accurate, non-invasive and free testing of the GAA enzyme activity in blood for any individual for whom  there is suspicion of Pompe disease. This testing program allows for the free GAA enzyme activity testing by the dried blood spot (DBS) method. MDA will cover the cost of collection and testing of the patient’s blood sample. All clinic physicians are able to order this free testing for any patient seen in their clinic.

Learn More about the MDA Pompe Testing Program » 

Pompe Disease Dried Blood Spot Testing and GAA Sequencing Program

The Duke Glycogen Storage Disease (GSD) Laboratory offers non-invasive and free testing through the Pompe Disease Dried Blood Spot (DBS) Testing and Gene Sequencing Program.

 Learn More about the Pompe Disease Dried Blood Spot Testing and GAA Sequencing Program »

Find Diagnostic Labs

Get a list of laboratories that can perform enzyme assays and other useful tests to aid in the diagnosis of Pompe disease.

Download Lab List 
(Intended for the U.S. only)

Ask a Medical Question

Genzyme Medical Information can answer questions about Pompe disease.

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