Ambry's Translational Genomics Lab: Understanding Variants of Uncertain Significance

Ambry's Translational Genomics Lab: Understanding Variants of Uncertain Significance

Explore Ambry Genetics' Translational Genomics Lab (ATG) services and their approach to clarifying Variants of Uncertain Significance (VUS) in this 57-minute webinar. Gain insights into specialized studies and protocols designed to better define VUS as benign or pathogenic, improving diagnostic yield. Learn about an RNA protocol for assessing splicing variants, comparing it to other assays, and discover how it has been implemented at Ambry to enhance patient treatment guidance. Aimed at genetic counselors, geneticists, and professionals interested in VUS clarification, this presentation by Dr. Rachid Karam and Laura Panos Smith, MS, CGC, offers valuable information for managing patients with uncertain genetic results.