Diagnostic outcomes for all subjects classified by presenting phenotype according to the American and European consensus recommendations
| All subjects (n=208) | RESP (n=72) | PANC (n=44) | AZOOSP (n=92) | |
| American recommendations | ||||
| Unlikely CF | 126 (60.6%) | 50 (69.5%) | 37 (84.1%) | 39 (42.4%) |
| CFTR-related disorder | 45 (21.6%) | 8 (11.1%) | 3 (6.8%) | 34 (37.0%) |
| CF | 37 (17.8%) | 14 (19.4%) | 4 (9.1%) | 19 (20.6%) |
| American recommendations with adjunctive NPD testing | ||||
| Unlikely CF | 142 (68.3%) | 54 (75.0%) | 38 (86.4%) | 50 (54.3%) |
| CFTR-related disorder | 10 (4.8%) | 2 (2.8%) | 1 (2.3%) | 7 (7.6%) |
| CF | 56 (26.9%) | 16 (22.2%) | 5 (11.5%) | 35 (38.0%) |
| European recommendations | ||||
| Unlikely CF | 132 (63.5%) | 54 (75.0%) | 35 (79.6%) | 43 (46.7%) |
| Inconclusive | 11 (5.3%) | 1 (1.4%) | 1 (2.3%) | 9 (9.8%) |
| CFTR dysfunction | 30 (14.4%) | 3 (4.2%) | 6 (13.6%) | 21 (22.8%) |
| Classic CF | 35 (16.8%) | 14 (19.4%) | 2 (4.5%) | 19 (20.7%) |
AZOOSP, obstructive azoospermia; CF, cystic fibrosis; CFTR, cystic fibrosis transmembrane conductance regulator; NPD, nasal potential difference; PANC, idiopathic recurrent acute or chronic pancreatitis; RESP, idiopathic sinopulmonary disease.