Phosphoserine Phosphatase Deficiency

Sponsored diagnostic testing programs for Phosphoserine Phosphatase Deficiency

Phosphoserine phosphatase deficiency affects serine biosynthesis, leading to microcephaly, developmental delay, seizures, and growth impairment. Symptoms vary from mild to severe. Genetic testing confirms the diagnosis and guides metabolic management and counseling.

1 program found for Phosphoserine Phosphatase Deficiency

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