Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies

Use

This test is useful for diagnosing mitochondrial diseases that stem from variants in either nuclear-encoded genes or the mitochondrial genome. It serves as a second-tier test for patients whose prior targeted gene variant analyses for specific mitochondrial disease-related genes were negative. It helps identify variants known to be associated with mitochondrial disease, facilitating predictive testing for at-risk family members. Identifying disease-causing variants can assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for mitochondrial disease.