Choroideremia

Sponsored diagnostic testing programs for Choroideremia

Choroideremia is an X-linked retinal dystrophy featuring progressive degeneration of the choroid, retinal pigment epithelium, and photoreceptors. Symptoms often begin with night blindness and peripheral vision loss, progressing to severe visual impairment. Genetic testing confirms the diagnosis and identifies candidates for emerging therapies.

1 program found for Choroideremia

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