Thiamine Metabolism Dysfunction Syndrome, Biotin-Responsive Basal Ganglia Disease

Sponsored diagnostic testing programs for Thiamine Metabolism Dysfunction Syndrome, Biotin-Responsive Basal Ganglia Disease

This disorder features recurrent encephalopathy, movement abnormalities, and characteristic basal ganglia lesions on MRI. Early biotin and thiamine treatment can prevent permanent neurologic damage. Genetic testing confirms the diagnosis and guides lifelong therapy and family risk assessment.

1 program found for Thiamine Metabolism Dysfunction Syndrome, Biotin-Responsive Basal Ganglia Disease

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