Table 1. Mutation detection efficiency using INNOLiPA tests: CFTR19 and CFTR17TnUpdate.
Mutations detected in a patient | Number of CF patients | Alleles with no mutation identified | Alleles with CF mutations detected using INNOLiPA tests | Further molecular analysis | |
CFTR_19 | CFTR_17TnUpdatea | ||||
both | 503 (68.1%) | 0 | 888 (60.2%) | 118 (8.0%) | Not necessary |
one | 109 (14.8%) | 109 | 98 (6.6%) | 11 (0.7%) | Yes |
none | 126 (17.1%) | 252 | 0 | 0 | Yes |
Legend: a I148T included in CFTR-17TnUpdate was not counted as a mutation if not in cis with c.3067-72del6 (l.n. 3199del6); c.1210(-12)Tn site in intron 9 (l.n.IVS8-Tn) without data on the associated TG repeat was not counted as a mutation.