Sulfite Oxidase Deficiency

Sponsored diagnostic testing programs for Sulfite Oxidase Deficiency

Sulfite oxidase deficiency is a severe metabolic disorder causing neonatal seizures, encephalopathy, feeding difficulties, and progressive neurologic deterioration. Structural brain abnormalities are common. Genetic testing confirms the diagnosis and supports urgent management and counseling.

1 program found for Sulfite Oxidase Deficiency

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