PIGO-Congenital Disorder of Glycosylation

Sponsored diagnostic testing programs for PIGO-Congenital Disorder of Glycosylation

PIGO-CDG is a GPI-anchor defect associated with developmental delay, hypotonia, seizures, and variable dysmorphic or skeletal features. Elevated serum alkaline phosphatase is common. Genetic testing confirms the diagnosis and supports treatment planning and genetic counseling.

1 program found for PIGO-Congenital Disorder of Glycosylation

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