Cockayne Syndrome

Sponsored diagnostic testing programs for Cockayne Syndrome

Cockayne syndrome is a neurodegenerative disorder characterized by growth failure, microcephaly, developmental delay, photosensitivity, and premature aging features. Affected individuals may develop progressive neurologic decline and hearing or vision loss. Genetic testing confirms the diagnosis and supports management and counseling.

1 program found for Cockayne Syndrome

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