Jalili Syndrome

Sponsored diagnostic testing programs for Jalili Syndrome

Jalili syndrome is an inherited condition characterized by cone-rod dystrophy and amelogenesis imperfecta, leading to progressive visual impairment and abnormal tooth enamel. Visual symptoms typically begin in childhood. Genetic testing confirms the diagnosis and guides dental and ophthalmologic management and family counseling.

1 program found for Jalili 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