Barth Syndrome

Sponsored diagnostic testing programs for Barth Syndrome

Barth syndrome is a rare, X-linked metabolic and cardiac disorder caused by pathogenic variants in the TAZ gene. It is characterized by cardiomyopathy, neutropenia, muscle weakness, growth delay, and elevated 3-methylglutaconic acid. Because symptoms can vary widely and emerge early in life, genetic testing is essential for confirmation and management.

1 program found for Barth Syndrome

Programs

1 program
Invitae Unlock™

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

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.

Cardiology
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Performing labInvitae | Labcorp