CAP ’13 – THE Pathologists’ Meeting – October 13 – 16, 2013™
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ST107  Next-Generation Sequencing for Inherited Disorders

Tuesday, October 15
8:00–10:00 AM

CAP SAMs Medical Knowledge Practice-Based Learning and Improvement

The translation of next-generation sequencing (NGS) into clinical diagnostic practice is accelerating. The inherent complexity of NGS brings new challenges and, by extension, new practice and consulting opportunities for pathologists. This course addresses the dynamic role of NGS in the diagnostic evaluation of inherited disorders, updating participants on NGS principles and processes, including multigene panels and exome and genome sequencing. Faculty will describe approaches to genome-scale data analysis for candidate gene discovery in patients and families with suspected gene disorders. Exome and genome sequencing provides an unprecedented view into the genetic makeup of individuals, posing unique pre- and post-testing issues, including appropriate clinical use, informed consent, and results interpretation and delivery. Following this session, participants may complete a related online self-assessment module, available at through December 31, 2013.

You will learn to:

Wayne W. Grody, MD, PhD, FCAP
Karl V. Voelkerding, MD, FCAP





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