Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy (PMSE) Syndrome

Sponsored diagnostic testing programs for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy (PMSE) Syndrome

PMSE syndrome presents with congenital macrocephaly, severe epilepsy, developmental delay, and cortical malformations. Symptoms often begin in infancy. Genetic testing confirms the diagnosis and supports management strategies and family counseling.

1 program found for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy (PMSE) Syndrome

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