CAPOS Syndrome

Sponsored diagnostic testing programs for CAPOS Syndrome

CAPOS syndrome—characterized by cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss—is a rare neurologic disorder most often caused by variants in the ATP1A3 gene. Symptoms typically begin in childhood, often triggered by fever or illness, and may progress over time. Genetic testing confirms the diagnosis and supports management and family counseling.

1 program found for CAPOS Syndrome

Programs

1 program
Invitae Unlock™

Invitae Epilepsy Panel

This program provides access to genetic testing for pediatric patients under 18 who present with an unprovoked seizure. The panel evaluates key epilepsy-associated genes to support diagnostic confirmation, inform prognosis, and guide clinical management. Testing is available to eligible patients when ordered by a licensed healthcare provider.

Neurology