Microcephaly, Epilepsy, and Diabetes Syndrome

Sponsored diagnostic testing programs for Microcephaly, Epilepsy, and Diabetes Syndrome

This syndrome combines congenital microcephaly, epilepsy, and childhood-onset diabetes, often due to monogenic beta-cell dysfunction. Additional neurological or developmental features may be present. Genetic testing identifies the underlying cause and informs endocrine and neurologic management.

1 program found for Microcephaly, Epilepsy, and Diabetes Syndrome

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