Sponsored diagnostic testing programs for Congenital Disorder of Glycosylation DOLK-CDG (CDG-Im)
Congenital Disorder of Glycosylation DOLK-CDG (CDG-Im) is a rare metabolic disease caused by pathogenic variants in the DOLK gene, leading to impaired protein glycosylation. The condition often presents in infancy with cardiomyopathy, muscle weakness, developmental delays, hypotonia, and variable multisystem involvement. Severity ranges widely, with some individuals experiencing life-threatening complications early in life.
1 program found for Congenital Disorder of Glycosylation DOLK-CDG (CDG-Im)
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.
