Microcephaly with Chorioretinopathy

Sponsored diagnostic testing programs for Microcephaly with Chorioretinopathy

Microcephaly with chorioretinopathy presents with small head size and retinal abnormalities causing visual impairment. Additional findings may include developmental delay or growth restriction. Genetic testing clarifies the cause, guides prognosis, and supports counseling.

1 program found for Microcephaly with Chorioretinopathy

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