Mitochondrial DNA Depletion Syndrome

Sponsored diagnostic testing programs for Mitochondrial DNA Depletion Syndrome

Mitochondrial DNA depletion syndromes are severe disorders characterized by reduced mtDNA copy number leading to progressive organ dysfunction, often affecting the brain, liver, or muscles. Onset is typically in infancy. Genetic testing identifies the causative gene and supports metabolic management and counseling.

1 program found for Mitochondrial DNA Depletion 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
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Performing labInvitae | Labcorp