Pyridoxal 5′-Phosphate-Dependent Epilepsy

Sponsored diagnostic testing programs for Pyridoxal 5′-Phosphate-Dependent Epilepsy

This epileptic encephalopathy results from impaired vitamin B6 metabolism and presents with neonatal or infantile seizures that respond to pyridoxal 5′-phosphate therapy. Developmental outcomes vary. Genetic testing confirms the diagnosis and guides lifelong treatment and counseling.

1 program found for Pyridoxal 5′-Phosphate-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