Genotypes of the children with HIRT according to the diagnostic score cut-off in the 21 patients with reliable NPD tests; results after extensive genetic analysis
| CFTR genotypes | Diagnosis score | |
| >0.27 (8 patients) | ≤0.27 (13 patients) | |
| A/A | 0 | F508del/621+3A→G F508del/Q1291R |
| A/AB | F508del/R347H F508del/R117H;T7 | W846X/R117C n=2 F508del/R1070W 2183AA→G/L206W F508del/3272-26A→G F508del/R117H;T7; n=4 |
| A/D | 0 | F508del/R933G G551D/R352Q |
| B/D | G622D/3849+45G→A | 0 |
| A/0 | F508del/0 n=2 | 0 |
| 0/0 | 3 | 0 |
0, no identified mutation; A, CF-causing mutation; B, mutation associated with cystic CFTR-related disorders; C, mutation with no clinical consequence ; D, mutation of unknown or uncertain clinical relevance; AB, mutation that is associated with a wide phenotypic spectrum that might belong to either group A or B.
CFTR, cystic fibrosis transmembrane conductance regulator; HIRT, hypertrypsinaemia; NPD, nasal potential difference.