Sponsored diagnostic testing programs for COG5-congenital Disorder of Glycosylation (CDG-IIi)
COG5-congenital disorder of glycosylation (COG5-CDG, CDG-IIi) is a rare inherited disorder caused by defects in the COG5 gene, disrupting normal protein glycosylation and affecting multiple organ systems. Individuals may show developmental delay, hypotonia, seizures, feeding difficulties, and neurologic involvement. Genetic testing confirms the diagnosis and supports management and counseling.
1 program found for COG5-congenital Disorder of Glycosylation (CDG-IIi)
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.
