View Only- Nuances of Mitochondrial Testing-Nuances of Mitochondrial Testing Presented by Baylor College of Medicine

Nuances of Mitochondrial Testing Presented by Baylor College of Medicine

Video Transcription

Video Summary

The video is a recording of the ACMG Genomics Case Conference, where the topic being discussed is the nuances of mitochondrial testing. The conference is hosted by Eric Schmidt, a genetic counselor at the Baylor Genetics Lab, and the presenters include Dr. William Cragen from Baylor College of Medicine and Dr. Gabrielle Geddes from the Medical College of Wisconsin. The presenters discuss various aspects of mitochondrial testing, including the clinical utility of exome genome sequencing tests, determining the pathogenicity of variants, pretest counseling, and evaluating the likelihood of a mitochondrial diagnosis. They also present case studies to illustrate these concepts. The conference emphasizes that the information provided is for educational purposes only and should be interpreted with caution when applied to clinical cases. The video concludes with announcements about upcoming conferences and events related to genomics and genetics.

Keywords

ACMG Genomics Case Conference

mitochondrial testing

exome genome sequencing tests

pathogenicity of variants

mitochondrial diagnosis