Molybdenum Cofactor Deficiency

Sponsored diagnostic testing programs for Molybdenum Cofactor Deficiency

Molybdenum cofactor deficiency is a rare neonatal-onset metabolic disorder causing intractable seizures, feeding difficulties, encephalopathy, and characteristic brain abnormalities. Early treatment may benefit certain subtypes. Genetic testing confirms the diagnosis and guides treatment decisions and counseling.

1 program found for Molybdenum Cofactor 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
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Performing labInvitae | Labcorp