Menkes Disease

Sponsored diagnostic testing programs for Menkes Disease

Menkes disease is an X-linked disorder of copper transport causing hypotonia, seizures, kinky hair, failure to thrive, and progressive neurodegeneration in infancy. Early copper therapy can improve outcomes when initiated promptly. Genetic testing confirms the diagnosis and supports newborn and family screening.

1 program found for Menkes Disease

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
ViewOrder
Performing labInvitae | Labcorp