Polyneuropathy, Deafness, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC)

Sponsored diagnostic testing programs for Polyneuropathy, Deafness, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC)

PHARC is a multisystem neurodegenerative disorder involving peripheral neuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa, and cataracts. Symptoms typically begin in adolescence or early adulthood. Genetic testing confirms the diagnosis and guides surveillance and supportive care.

1 program found for Polyneuropathy, Deafness, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC)

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
Polyneuropathy, Deafness, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) - Sponsored Testing Programs | Sponsored Testing