NGLY1-Congenital Disorder of Glycosylation (CDG-Iv)

Sponsored diagnostic testing programs for NGLY1-Congenital Disorder of Glycosylation (CDG-Iv)

NGLY1-CDG is a congenital disorder of deglycosylation characterized by developmental delay, movement disorders, hypotonia, alacrimia, liver involvement, and often seizures. Presentation and severity can vary. Genetic testing confirms the diagnosis and guides supportive management and family counseling.

1 program found for NGLY1-Congenital Disorder of Glycosylation (CDG-Iv)

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