Thiamine Metabolism Dysfunction Syndrome 5, Episodic Encephalopathy Type

Sponsored diagnostic testing programs for Thiamine Metabolism Dysfunction Syndrome 5, Episodic Encephalopathy Type

This condition causes recurrent episodes of encephalopathy triggered by illness, often accompanied by ataxia, confusion, or seizures. Symptoms improve with timely thiamine supplementation. Genetic testing establishes the diagnosis and guides preventive therapy and family counseling.

1 program found for Thiamine Metabolism Dysfunction Syndrome 5, Episodic Encephalopathy Type

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