Use

The Invitae Pompe Disease test analyzes the GAA gene, which is the only known gene to cause Pompe disease, a glycogen-storage disease that progresses through deterioration of skeletal, heart, and smooth muscle tissues. This test is particularly crucial for individuals with an abnormal newborn screen for Pompe disease, clinical signs such as significant hypotonia, cardiomegaly, and hepatomegaly in infancy, or progressive muscle weakness. It provides necessary molecular analysis in individuals with low GAA enzyme activity, particularly due to known pseudodeficiency alleles in certain populations that cause reduced enzyme activity without clinical disease.