Achromatopsia

Sponsored diagnostic testing programs for Achromatopsia

Achromatopsia is a congenital retinal disorder characterized by markedly reduced visual acuity, light sensitivity, nystagmus, and absent or severely reduced color vision. Symptoms are typically present from infancy. Genetic testing helps confirm the diagnosis, define prognosis, and support counseling.

1 program found for Achromatopsia

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