Supplementary file #1:
Fictional pedigree with cascade screening for FH mutation
Suppose a cascade screening in a family where every adult subject has two children, 50% of
the children of parents with an FH mutation will have that mutation, and the upper
generations have deceased (supplementary file #1). In this example, one out of three 1st
degree relatives (#4 out of # 2, #3 and #4), zero out of one living 2nd degree relative (#5) and
overall two out of seven tested relatives of the probands is/are tested positive.
1: Pedigree with proband with clinical FH and LDLR mutation
identified, and the probands’ grandparents have deceased
2: First degree relatives to screen for LDLR in proband
3: Test results in first degree relatives known
4: Second degree relatives tested and those you would have wanted to
test who are no longer alive
5: Further degree relatives alive that are tested
6: With knowledge of affected persons, fill in known obligate carriers
as well
Conclusion
Out of seven living relatives of proband tested (i.e. 2, 3, 4, 5, 16, 17,
18, 19) only two additional carriers identified (4, 17) and more elder
persons are tested that are identified as non-carrier.