Table 1.
Sensitivity and specificity of TS assay for karyotyped females with and without TS
| DNA source | Buccal swab | Yale Cytogenetics Lab and Coriell TS | All combined |
|---|---|---|---|
| True positive | 51 | 20 | 71 |
| False negative | 2 | 1 | 3 |
| True negative | 16 | 112 | 128 |
| False positive | 3 | 1 | 4 |
| Sum | 72 | 134 | 206 |
| Sensitivity | 96.2 | 95.2 | 96.0 |
| Specificity | 84.2 | 99.1 | 97.0 |
| Positive predictive value | 94.4 | 95.2 | 94.7 |
| Negative predictive value | 88.9 | 99.1 | 97.7 |
Sensitivity and specificity are presented for three sample sets: 1) buccal swab (n = 72), 2) combination of Yale Cytogenetics Lab samples (n = 116) and Coriell TS (cell line) samples (n = 18), and 3) combination of buccal swab (n = 72) and Yale Cytogenetics Lab (leukocyte) samples (n = 116) and Coriell TS (cell line) samples (n = 18; Supplemental Table S1). Diagnostic criteria for TS are complete homozygosity of all 18 markers or at least one out-of-range marker.