CFTR genetic testing reports can be challenging to decode - c.1521_1523delCTT may at first seem like a novel or rare CFTR variant, but it's another way of describing F508del. In this session, we define basic terms of CFTR variant nomenclature, provide case examples, and describe common pitfalls when reading CFTR genotyping reports. We will offer strategies and resources for genetic testing report interpretation and discuss ways to break down the complex report language to have meaningful discussions about genetic test results with CF care team members, patients, and families.
Originally recorded November 4, 2022.
17 ноя 2022
