Table 1.
Performance of the assay in detecting small-scale alterations in the CFTR gene
| Location | cDNA position | Legacy name | Mutation class | Sensitivity |
|---|---|---|---|---|
| i6 | c.654-10delAGTT | 786-10delAGTT | Splice site | 1/1 |
| i6 | c.743 + 40A > G | 875 + 40A/G | Splice site | 1/1 |
| i7 | c.869 + 11C > T | 1001 + 11C > T | Splice site | 1/1 |
| e8 | c.926C > G | A309G | Missense | 1/1 |
| e11 | c.1394C > T | T465I | Missense | 1/1 |
| e11 | c.1397C > G | S466X | Nonsense | 1/1 |
| e11 | c.1521_1523delCTT | F508del | In-frame deletion* | 6/6 |
| e12 | c.1624G > T | G542X | Nonsense* | 1/1 |
| e14 | c.2012delT | 2143delT | Frameshift deletion | 2/2 |
| e14 | c.2051_2052delAAinsG | 2183AA > G | Frameshift insdel* | 1/1 |
| e14 | c.2052_2053insA | 2184insA | Frameshift insertion | 6/6 |
| e14 | c.2052delA | 2184delA | Frameshift deletion* | 1/1 |
| e15 | c.2562 T > G | 2694 T/G | Synonymous | 4/4 |
| i16 | c.2657 + 5G > A | 2789 + 5G > A | Splice site* | 1/1 |
| e17 | c.2856G > C | M952I | Missense | 1/1 |
| e21 | c.3454G > C | D1152H | Missense* | 1/1 |
| e23 | c.3846G > A | W1282X | Nonsense* | 1/1 |
| e27 | c.4389G > A | 4521G/A | Synonymous | 1/1 |
Mutations that are included in the Elucigene CF29v2 kit are labelled with an asterisk