Outcome | Cascade strategies | |||
Cholesterol | DNA | DNA+DFH | DNA+DFH+PFH | |
Cases (N=1000) | ||||
True positive | 480* | 420* | 450* | 480* |
False negative | 0 | 60 | 30* | 0 |
False positive | 420* | 420 | 420 | 420* |
True negative | 100 | 100 | 100 | 100 |
Relatives | ||||
True positive | 765 | 1338 | 1385 | 1433 |
False negative | 430 | 0 | 27 | 53 |
False positive | 497 | 0 | 33 | 297 |
True negative | 2611 | 1338 | 1513 | 2898 |
Total relatives tested | 4302 | 2675 | 2959 | 4681 |
↵* Probands where cascade testing was undertaken.
DFH, definite familial hypercholesterolaemia; PFH, possible familial hypercholesterolaemia.