Respiratory

Question 1

What are the 4 most common mutations in Cystic Fibrosis?

Answer 1

F508del, G542X, G551D, R117H

Question 2

What is the carrier rate of Cystic Fibrosis in the general population?

Answer 2

1 in 25

Question 3

How to we screen of CF in newborn screening?

Answer 3

1. IRT (Immune Reactive Trypsin) >99th %ile

2. then, Genetic testing (3 genes) - if positive referred for diagnostic testing