Neuronal Ceroid Lipofuscinosis

Sponsored diagnostic testing programs for Neuronal Ceroid Lipofuscinosis

The neuronal ceroid lipofuscinoses are a group of lysosomal storage disorders characterized by progressive seizures, vision loss, cognitive decline, and motor deterioration. Onset ranges from infancy to adulthood depending on subtype. Genetic testing identifies the specific form and guides prognosis, management, and family counseling.

1 program found for Neuronal Ceroid Lipofuscinosis

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
ViewOrder
Performing labInvitae | Labcorp