Table 1 Specificity and sensitivity of paralogous sequence quantification assays.
Assay | CYLN2 | WBSCR3.4M | Combined | |||
---|---|---|---|---|---|---|
Mean control | 46.7 | 50.3 | 50.0 | |||
SD of control | 1.9 | 2.2 | 1.6 | |||
Mean WBS | 32.9 | 37.3 | 36.1 | |||
SD of WBS | 2.2 | 1.7 | 1.6 | |||
Number of samples | 163 | 160 | 160 | |||
Number of uncertain samples | 6 | 4 | 3 | |||
Sensitivity | 0.95 | 0.97 | 0.98 | |||
Specificity | 1.00 | 1.00 | 1.00 |
WBS, Williams‐Beuren syndrome samples.