Alström Syndrome - Sponsored Testing Programs

Alström Syndrome

Sponsored diagnostic testing programs for Alström Syndrome

Alström syndrome is a rare, inherited multisystem disorder caused by pathogenic variants in ALMS1. It often begins in childhood with progressive vision loss, sensorineural hearing impairment, severe insulin resistance, and early-onset obesity. Over time, many individuals develop cardiomyopathy, type 2 diabetes, hepatic dysfunction, and kidney disease, making early recognition and genetic diagnosis important for management and monitoring.

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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