Congenital Disorder of Glycosylation DOLK-CDG (CDG-Im)

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)

Programs

1 program
Invitae Unlock™

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

The Invitae Unlock™ Cardiomyopathy & Arrhythmia program offers sponsored genetic testing for U.S. patients with suspected inherited cardiomyopathy or arrhythmia. The comprehensive panel supports diagnostic clarification, risk assessment, and family variant identification. The test is billed to insurance first; when a claim is denied or the patient is uninsured, the program's sponsor covers the cost of testing. Testing must be ordered by a qualified healthcare provider.

Cardiology
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Performing lab
Invitae | Labcorp