Table 3.
Validation assay for 41 clinical WD patient samples
| Genotype | No. of samples | Tm (SD), °C | CV, % | Correct genotyping rate (%) |
|---|---|---|---|---|
| Homozygotes | ||||
| 778WT | 29 | 76.75 (0.17) | 0.22 | 100 |
| p.R778L | 1 | 72.73 (N/A) | N/A | 100 |
| 992WT | 31 | 81.43 (0.37) | 0.46 | 100 |
| p.P992L | 6 | 76.96 (0.39) | 0.51 | 100 |
| 1106WT | 29 | 71.17 (0.22) | 0.31 | 100 |
| p.V1106I | 7 | 66.90 (0.11) | 0.16 | 100 |
| Heterozygotes | No. of samples | ΔTm (SD), °C | CV, % | Correct genotyping rate (%) |
|---|---|---|---|---|
| 778WT/p.R778L | 11 | 4.27 (0.16) | 3.74 | 100 |
| 992WT/p.P992L | 4 | 4.31 (0.54) | 12.53 | 100 |
| 1106WT/p.V1106I | 5 | 4.63 (0.05) | 1.07 | 100 |
The probe melting temperatures (Tm) from within‐run and between‐run showing averaged Tms, difference between melting temperatures (ΔTm) for heterozygotes, standard deviations (SD, in parentheses), and coefficient of variation (CV) are listed. N/A, not available (only one sample with this genotype was run, thus SD and CV could not be calculated).