Table 3. CTFR mutation detection rate of the different approaches used in this study.
| Patient | First-level CFTR screening (36 mutations + 5T allele) | CFTR Italian regional kit | MLPA analysis | DHPLC analysis | Final genotype |
|---|---|---|---|---|---|
| 1 | [delta]F508/5T | — | — | — | [delta]F508/5T |
| 2 | [delta]F508/5T | — | — | — | [delta]F508/5T |
| 3 | [delta]F508/5T | — | — | — | [delta]F508/5T |
| 4 | [delta]F508/5T | — | — | — | [delta]F508/5T |
| 5 | [delta]F508/5T | — | — | — | [delta]F508/5T |
| 6 | G542X/5T | — | — | — | [delta]F508/5T |
| 7 | G542X/5T | — | — | — | [delta]F508/5T |
| 8 | W1282X/5T | — | — | — | W1282X/5T |
| 9 | [delta]F508/wt | [delta]F508/T338I | — | — | [delta]F508/T338I |
| 10 | [delta]F508/wt | [delta]F508/wt | [delta]F508/wt | [delta]F508/wt | [delta]F508/wt |
| 11 | 5T/wt | 5T/T338I | — | — | 5T/T338I |
| 12 | 5T/wt | 5T/wt | 5T/del ex1 | — | 5T/del ex1 |
| 13 | 5T/wt | 5T/wt | 5T/del ex19 | — | 5T/del ex19 |
| 14 | 5T/wt | 5T/wt | 5T/wt | 5T/2811G/T | 5T/2811G/T |
| 15 | 5T/wt | 5T/wt | 5T/wt | 5T/I105N | 5T/I105N |
| 16 | 5T/wt | 5T/wt | 5T/wt | 5T/wt | 5T/wt |
| 17 | 5T/wt | 5T/wt | 5T/wt | 5T/wt | 5T/wt |
| 18 | 5T/wt | 5T/wt | 5T/wt | 5T/wt | 5T/wt |
| 19 | 5T/wt | 5T/wt | 5T/wt | 5T/wt | 5T/wt |
| 20 | 5T/wt | 5T/wt | 5T/wt | 5T/wt | 5T/wt |
| 21 | 5T/wt | 5T/wt | 5T/wt | 5T/wt | 5T/wt |
| 22 | 5T/wt | 5T/wt | 5T/wt | 5T/wt | 5T/wt |
| 23 | 5T/wt | 5T/wt | 5T/wt | 5T/wt | 5T/wt |
| Detection rate | 8/23 (34.8%) | 2/15 (13.3%) | 2/13 (15.3%) | 2/11 (18.1%) | 14/23 (60.8%) |
Abbreviations: CFTR, cystic fibrosis transmembrane conductance regulator; DHPLC, denaturing high-performance liquid chromatography; MLPA, multiple ligation-dependent probe amplification; wt, wildtype.
The first-level screening is composed of two analyses: one for 19 mutations and the other for 17 mutations.