PIGB-Congenital Disorder of Glycosylation

Sponsored diagnostic testing programs for PIGB-Congenital Disorder of Glycosylation

PIGB-CDG is a rare disorder of GPI-anchor biosynthesis presenting with global developmental delay, hypotonia, seizures, and variable dysmorphic or systemic features. Laboratory findings may suggest a GPI-anchor defect. Genetic testing is essential to confirm the diagnosis and guide management and family counseling.

1 program found for PIGB-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
ViewOrder
Performing labInvitae | Labcorp