Phosphoglycerate Dehydrogenase Deficiency, Neu-Laxova Syndrome

Sponsored diagnostic testing programs for Phosphoglycerate Dehydrogenase Deficiency, Neu-Laxova Syndrome

Phosphoglycerate dehydrogenase deficiency affects serine biosynthesis and may cause microcephaly, severe developmental impairment, seizures, or Neu-Laxova syndrome in its most severe form. Early serine supplementation may benefit some patients. Genetic testing confirms the diagnosis and guides management.

1 program found for Phosphoglycerate Dehydrogenase Deficiency, Neu-Laxova Syndrome

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