The diagnosis of CF has evolved over time as more information becomes available about CF genetics, outcomes associated with newborn screening, and new diagnostic techniques are developed. To reflect these changes, in October 2015 the CF Foundation sponsored a consensus conference to revise the diagnostic criteria for CF. The goal of this symposium is to review the key findings and recommendations from the conference.
Describe the different categories of CFTR mutations in CFTR2.
Describe outcomes in infants with a positive CF newborn screen but inconclusive diagnostic testing.
Describe the role of ancillary studies in the diagnosis of CF.