Glycosylphosphatidylinositol (GPI) Biosynthesis Defect 11

Sponsored diagnostic testing programs for Glycosylphosphatidylinositol (GPI) Biosynthesis Defect 11

GPI biosynthesis defect 11 is one of the inherited disorders of GPI-anchor synthesis and attachment, typically presenting with developmental delay, hypotonia, seizures, and variably dysmorphic features or organ involvement. Laboratory findings may show elevated alkaline phosphatase. Genetic testing identifies the causative defect and guides care and counseling.

1 program found for Glycosylphosphatidylinositol (GPI) Biosynthesis Defect 11

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