Session # Oral Session V (Abstract 79)

A deep dive into APC introns: Paired DNA/RNA testing identifies novel FAP and AFAP alleles in the deep intronic regions of APC

Ambry Authors: Jessica Grzybowski, MS, CGC; Carrie Horton, MS, CGC; Marcy E. Richardson, PhD; Nelly Abualkheir, PhD; Hoda Mirsafian, PhD; Rachid Karam, PhD; Elizabeth Chao MD, FACMG

1.    RNA testing identified three novel pathogenic APC variants
2.    Identification of these alterations gave a genetic cause for FAP/AFAP in 13 probands across 6 different families
3.    Paired DNA/RNA testing is an critical tool to identifying the full spectrum of disease causing mutations in APC helping in medical management for patients and their families

• Title: A deep dive into APC introns: Paired DNA/RNA testing identifies novel FAP and AFAP alleles in the deep intronic regions of APC
• Speakers: Colin Young
• Conference: CGA-IGC 2022
• Date: Sunday, Nov 13, 2022 10:55am - 12:55pm