Refsum Disease

Sponsored diagnostic testing programs for Refsum Disease

Refsum disease is a peroxisomal disorder associated with progressive neuropathy, retinitis pigmentosa, hearing loss, ichthyosis, and cardiac abnormalities. Dietary restriction of phytanic acid can slow progression. Genetic testing confirms the diagnosis and supports lifelong management.

1 program found for Refsum Disease

Programs

1 program
Invitae Unlock™

Invitae Inherited Retinal Disorders Panel

This program offers U.S. clinicians access to comprehensive genetic testing for patients with suspected inherited retinal diseases, including RP, CRD, LCA, Stargardt disease, and other IRDs. Testing is also appropriate for asymptomatic individuals with a family history of IRD or a known pathogenic variant in a relevant gene, supporting diagnosis, risk assessment, and patient management.

Ophthalmology
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Performing labInvitae | Labcorp