RFT1-Congenital Disorder of Glycosylation (CDG-in)

Sponsored diagnostic testing programs for RFT1-Congenital Disorder of Glycosylation (CDG-in)

RFT1-CDG is a rare congenital disorder of glycosylation associated with developmental delay, seizures, hypotonia, feeding issues, and sometimes hearing loss. Severity varies. Genetic testing confirms the diagnosis and supports metabolic and neurologic management and counseling.

1 program found for RFT1-Congenital Disorder of Glycosylation (CDG-in)

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