Pyridoxine-Dependent Epilepsy

Sponsored diagnostic testing programs for Pyridoxine-Dependent Epilepsy

Pyridoxine-dependent epilepsy is a treatable metabolic epileptic encephalopathy presenting with neonatal or early-infantile seizures responsive to pyridoxine. Without treatment, neurologic impairment may progress. Genetic testing confirms the diagnosis and supports management and family counseling.

1 program found for Pyridoxine-Dependent Epilepsy

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
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Performing labInvitae | Labcorp