Table 1

Number of index cases and relatives identified by the four cascade strategies

OutcomeCascade strategies
CholesterolDNADNA+DFHDNA+DFH+PFH
Cases (N=1000)
 True positive480*420*450*480*
 False negative06030*0
 False positive420*420420420*
 True negative100100100100
Relatives
 True positive765133813851433
 False negative43002753
 False positive497033297
 True negative2611133815132898
Total relatives tested4302267529594681
  • * Probands where cascade testing was undertaken.

  • DFH, definite familial hypercholesterolaemia; PFH, possible familial hypercholesterolaemia.