Sponsored diagnostic testing programs for Glycogen Storage Disease Type II (GSDII), (Pompe Disease)
Pompe disease (Glycogen Storage Disease Type II) is a rare metabolic disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA), leading to glycogen buildup in muscle tissues. Severity varies widely, ranging from infantile-onset disease with cardiomyopathy and profound weakness to later-onset forms marked by progressive skeletal and respiratory muscle involvement. Early diagnosis is important, as treatment can slow disease progression.
1 program found for Glycogen Storage Disease Type II (GSDII), (Pompe Disease)
The Invitae Unlock™ Cardiomyopathy & Arrhythmia program offers no-charge genetic testing for U.S. patients with suspected inherited cardiomyopathy or arrhythmia. The comprehensive panel supports diagnostic clarification, risk assessment, and family variant identification. Eligible patients may access testing at no cost when ordered by a qualified healthcare provider.
