Table 1.
Potential HD cases, true positives (TP), false positives (FP), positive predictive value (PPV) and sensitivity of all sources of ascertainment
| Source of ascertainment | Potential HD cases | TP | FP | PPV (95% CI) | Sensitivity (95% CI) |
|---|---|---|---|---|---|
| MBDS | 40 | 31 | 9 | 75.5% (61.2, 88.6) | 50.0% (37.2, 62.8) |
| ECRPC | 51 | 41 | 10 | 80.4% (66.5, 89.7) | 66.1% (52.9, 77.4) |
| TWDR | 7 | 7 | 0 | 100% (56.1, 100) | 11.3% (5.0, 22.5) |
| MS | 21 | 20 | 1 | 95.2% (74.1, 99.8) | 69.0% (49.1, 84.0) |
| MGC | 61 | 61 | 0 | 100% (92.6, 100) | 98.4% (90.2, 100) |
MBDS minimum basic data set at hospital discharge, ECRPC electronic clinical records in primary care, TWDR Temporary Work Disability Registry, MS mortality statistics, MGC Medical Genetics Centre