Session # 8

A scientific approach to multi-gene panel testing design: an overview of hereditary cardiovascular testing

• To design multi-gene panel testing, proper gene vetting process is required to support detection rates
• 13% of the genes in a combined 106 gene hereditary cardiology panel have limited clinical validity score
• 42% of the genes have definitive clinical validity with nearly 12 mutations/VLPs per gene
• only one VLP was identified in the genes with limited clinical validity

• Authors: Sourat Darabi; Tricia Zion; Bess Wayburn; Devon Lamb Thrush; Erica Smith; Tami Johnston; Kelly Farwell Hagman; Melissa Para; Brigette Tippin Davis
• Conference: CCG 2017
• Date: Thursday, Jun 29, 2017 12:00pm - 6:00pm