Cohen Syndrome

Sponsored diagnostic testing programs for Cohen Syndrome

Cohen syndrome is a rare genetic condition characterized by developmental delay, characteristic facial features, hypotonia, truncal obesity, neutropenia, and retinal dystrophy. Vision problems often progress over time due to rod-cone degeneration. Genetic testing confirms the diagnosis and guides surveillance and family counseling.

1 program found for Cohen 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