PIGQ-Congenital Disorder of Glycosylation

Sponsored diagnostic testing programs for PIGQ-Congenital Disorder of Glycosylation

PIGQ-CDG is a rare GPI-anchor biosynthesis disorder presenting with early-onset seizures, developmental delay, hypotonia, and dysmorphic features. Additional organ involvement may be present. Genetic testing confirms the diagnosis and helps inform prognosis, management, and family counseling.

1 program found for PIGQ-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
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Performing labInvitae | Labcorp