Testing Options

There are many paths to a Pompe disease diagnosis. Diagnostic testing for both late-onset and infantile-onset Pompe disease can be carried out with a blood-based assay such as dried blood spot samples, with confirmation through GAA gene sequencing.

Variant analysis of the GAA gene and a multigene testing panel, however, may be part of clinical decision-making at various points in a diagnostic pathway.

Based on clinical judgment, additional testing such as muscle or skin biopsy may be needed during an infantile-onset or late-onset Pompe disease diagnosis.


Testing for Pompe Disease

Get a list of U.S. laboratories that can perform GAA enzyme assay and GAA gene sequencing to aid in the diagnosis of Pompe disease. This is not an all-inclusive list, with the potential for regional differences in testing availability. A multigene testing panel can also be ordered from some of these laboratories, which allows simultaneous testing for a range of neuromuscular disorders.