Timothy Syndrome

Sponsored diagnostic testing programs for Timothy Syndrome

Timothy Syndrome is an extremely rare multisystem genetic disorder caused by pathogenic variants in the CACNA1C gene, leading to severe cardiac arrhythmias—most notably prolonged QT interval—along with distinct physical, metabolic, and neurodevelopmental features. Affected individuals may experience life-threatening arrhythmias, syndactyly, immune dysfunction, and developmental delays, with symptoms often presenting early in childhood.

1 program found for Timothy Syndrome

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