The mitochondrial genome is a circular 16.5kb DNA molecule (mtDNA) that encodes 37 genes essential for normal mitochondrial function. Defects in mtDNA result in dysfunction of the mitochondrial respiratory chain, leading to disorders that vary in phenotype, affected tissue(s), and severity. Although mtDNA disorders are relatively common, testing for these disorders can be challenging.
In this webinar, we will review the capabilities of a next-generation sequencing (NGS)-based mtDNA assay that is performed in parallel with nuclear DNA analysis. This technology has allowed for mtDNA analysis to be added to over 30 panels at Blueprint Genetics. We will present our experience including mtDNA analysis as part of clinical genetic testing and demonstrate how this approach increases the diagnostic yield of NGS-based panel testing. Finally, we will present a selection of clinical cases.
- Review the role of the mitochondrial variants in inherited disease
- Describe current capabilities in NGS testing for evaluating mtDNA variants at Blueprint Genetics
- Provide an overview of the recent experiences at Blueprint Genetics adding mtDNA analysis to panel testing
Jennifer Schleit, PhD, FACMG, received a PhD in pathology from the University of Washington in Seattle. She completed a clinical fellowship at the University of Washington and received her certification in clinical molecular genetics from the American Board of Medical Genetics and Genomics (ABMGG). Dr Schleit served as an Assistant Director at the Center for Precision Diagnostics at the University of Washington before accepting a position as senior geneticist at Blueprint Genetics in 2017. Her last position at Blueprint Genetics was as Laboratory Director of the Seattle facility until September 2022.
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