This webinar will present the recent recommendations from the American College of Medical Genetics and National Society of Genetic Counselors regarding the appropriate use of orthogonal confirmation for germline variants identified by next-generation sequencing (NGS). These recommendations will be placed in the context of the state of knowledge of the advantages and disadvantages of NGS technologies commonly in use in clinical laboratories and in the context of applicable laboratory regulation. Resources for integrating the recommendations into laboratory workflows and policies will be discussed.
Level of Instruction: Intermediate