Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

Sponsored diagnostic testing programs for Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

SSADH deficiency disrupts GABA metabolism, leading to developmental delay, hypotonia, ataxia, behavioral difficulties, and epilepsy. Symptoms range from mild to severe. Genetic testing confirms the diagnosis and guides management, counseling, and emerging treatment considerations.

1 program found for Succinic Semialdehyde Dehydrogenase (SSADH) 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