Genetics Clinical Grand Rounds: “Implementation and Assessment of Clinical Mitochondrial Genome Sequencing Test at the DNA Lab”

In additional to nuclear genome, human mitochondrial genome is an essential component of genetic information encoded in the human genome. Deregulation of mitochondrial genome as a result of small SNVs/Indels or large copy number variants contributes to mitochondrial diseases. This demands a molecular testing approach for accurate and efficient detection of mitochondrial genome disorders. This presentation will summarize the implementation of mitochondrial genome sequencing test and assess its clinical utility at the Yale DNA diagnostic lab.