Sponsored diagnostic testing programs for ALG13-Congenital Disorder of Glycosylation (CDG-Is)
ALG13-congenital disorder of glycosylation (ALG13-CDG, CDG-Is) is a rare genetic condition affecting protein glycosylation, often presenting with early-onset epilepsy and significant developmental delay. Additional features may include hypotonia, feeding issues, and variable neurologic involvement. Genetic testing is key for diagnosis and care planning.
1 program found for ALG13-Congenital Disorder of Glycosylation (CDG-Is)
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.
