TMED7-Related Retinal Dystrophy and Neurodevelopmental Disorder

Sponsored diagnostic testing programs for TMED7-Related Retinal Dystrophy and Neurodevelopmental Disorder

This condition features early-onset retinal degeneration along with developmental delay, hypotonia, and sometimes seizures. Vision impairment may progress over time. Genetic testing confirms the diagnosis and supports coordinated neurologic and ophthalmologic management.

1 program found for TMED7-Related Retinal Dystrophy and Neurodevelopmental Disorder

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