PNPLA6-Related Neurological Syndromes

Sponsored diagnostic testing programs for PNPLA6-Related Neurological Syndromes

PNPLA6-related syndromes encompass a spectrum of neurodegenerative disorders featuring cerebellar ataxia, spasticity, peripheral neuropathy, and chorioretinal dystrophy, with possible endocrine or cognitive involvement. Onset and severity vary widely. Genetic testing clarifies the subtype and guides surveillance and multidisciplinary care.

1 program found for PNPLA6-Related Neurological Syndromes

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