Phosphoserine Aminotransferase (PSAT) Deficiency, Neu-Laxova Syndrome Type 2

Sponsored diagnostic testing programs for Phosphoserine Aminotransferase (PSAT) Deficiency, Neu-Laxova Syndrome Type 2

PSAT deficiency disrupts serine metabolism and leads to developmental delay, seizures, microcephaly, and in severe cases Neu-Laxova syndrome. Treatment with serine and glycine may improve outcomes in milder forms. Genetic testing confirms the diagnosis and informs therapy and counseling.

1 program found for Phosphoserine Aminotransferase (PSAT) Deficiency, Neu-Laxova Syndrome Type 2

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