CF Flashcards
1
Q
What is the most common disease-causing mutation in CF?
A
Delta F508
2
Q
If sweat test is equivocal, what other tests can be done to investigate a potential CF diagnosis?
A
Genetic testing is performed looking for 2 disease-causing mutations
Nasal potential difference (NPD) and intestinal current measurements (ICM) can also be used at specialist centres
3
Q
A
