Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission

Sponsored diagnostic testing programs for Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission

Encephalopathy due to defective mitochondrial and peroxisomal fission is a severe neurodevelopmental condition associated with early-onset hypotonia, seizures, developmental delay, and structural brain abnormalities. It results from impaired organelle division affecting cellular energy and lipid metabolism. Genetic testing confirms the diagnosis and informs care planning.

1 program found for Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission

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