Ophthalmology

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.

This program offers no-cost 110-gene panel testing for patients with a clinically confirmed inherited retinal disease (IRD). Testing supports molecular diagnosis, guides management decisions, and helps identify individuals who may qualify for targeted therapies or clinical research. Eligible patients must enroll through the Program workflow and complete all required consent and HIPAA documentation.

This program provides no-cost access to a 66-gene panel for U.S. patients aged 18 months to 35 years with current or historical idiopathic bilateral cataracts. The test evaluates key cataract, connexin, crystallin, developmental, and metabolic genes to support diagnosis and management, including early detection of CTX. Providers assess eligibility and oversee ordering, specimen collection, and result interpretation.

This program provides no-cost access to genetic testing for U.S. patients with confirmed or suspected PBD-ZSD. The panel evaluates core PEX genes associated with peroxisome biogenesis disorders and supports diagnosis, management, and assessment of disease severity. Providers assess eligibility, coordinate specimen collection and shipping, and review both genetic and reflex biochemical results.