Table 3. Comparison of the efficiency of mutation detection efficiency using INNOLiPA tests and teh follow-up screening (SSCP/HD and sequencing).
Overall mutations detected in a patient | Proportion of patients | CF mutations per patient detected in INNOLiPA tests | Additional CF alleles detected in the follow-up phase | Number of CF patients |
both | 78.6% | both | n.a. | 503 |
“ | “ | one | 1 | 71a |
“ | “ | none | 2 | 6 |
one | 7.8% | none | 1 | 20b,c |
“ | “ | one | 0 | 38c |
none | 13.6% | none | 0 | 38c+62 |
Legend: a including six alleles with T5_TG12–13 in intron 9; b including four alleles with T5or8_TG12–13 in intron 9; c also analyzed by MLPA