Sponsored diagnostic testing programs for Cerebral Folate Deficiency
Cerebral folate deficiency is a neurologic-metabolic disorder characterized by low levels of 5-methyltetrahydrofolate in the brain despite normal blood folate levels. Symptoms may include developmental delay, seizures, movement abnormalities, irritability, or regression in early childhood. Genetic testing can help identify underlying causes and guide treatment and counseling.
1 program found for Cerebral Folate Deficiency
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.
