IRT (μg/litre) | PAP (μg/litre) | Mutation 1 | Mutation 2 | Sweat test chloride (mmol/litre) | |
1 | 199 | 1.4 | E60X | R117H-7T | 36 |
2 | 139 | 0.8 | 394delTT | R117H-7T/9T | 21 |
3 | 123 | 0.6 | F508del | R117H-7T | 22 |
4 | 89 | 1.4 | S1251N | R117H-7T | 29 |
5 | 79 | 1.6 | F508del | R117H-7T | 26 |
6 | 77 | 2.4 | R553X | R117H-7T | 22 |
7 | 76 | 0.8 | F508del | R117H-7T | 34 |
8 | 73 | 0.5 | F508del | R117H-7T | 25 |
9 | 70 | 1.0 | F508del | R117H-7T | 22 |
10 | 69 | 1.1 | F508del | R117H-7T | 33 |
11 | 67 | 2.7 | F508del | R117H-7T | 17 |
12* | 174 | 3.8 | F508del | L967S | 19 |
13* | 84 | 3.2 | F508del | Q1352H | 17 |
Equivocal diagnosis=two CFTR gene mutations of which one has unclear clinical significance, and a normal or equivocal sweat test result.
↵* Second mutation detected by sequencing.
IRT, immunoreactive trypsinogen; PAP, pancreatitis-associated protein.