Table 2.

Assessment of the biochemical screening for FH based on: (A) LDL-C, (B) TC, at nine years of age.

A.
LDL-C	I	II	III	IV
1·84 MoM (4.25 mmol/L)					Wald et al. 2007
DR (95%CI)	83% (35.9 to 99.6)	83% (35.9 to 99.6)	62.5% (24.5 to 91.5)	66.7% (29.9 to 92.5)	85% (79 to 89)
FPR (95%CI)	0.8% (0.4 to 1.4)	0.2% (0.1 to 0.4)	0.2% (0.1 to 0.4)	0.2% (0.1 to 0.4)	0.1%
PPV (95%CI)	29.4% (10.3 to 56.0)	29.4% (10.3 to 56.0)	29.4% (10.3 to 56.0)	35.3% (14.2 to 61.7)	NA
NPV (95%CI)	99.9% (99.6 to 100)	99.9% (99.9 to 100)	99.9% (99.6 to 99.9)	99.9% (99.8 to 100)
OAPR (95%CI)	5:12 (0.15 to 0.72)	5:12 (0.15 to 0.72)	5:12 (0.15 to 0.72)	6:11 (0.23 to 0.83)
B.
TC	I	II	III	IV
1·53 MoM (6.47 mmol/L)					Wald et al. 2007
DR (95%CI)	33% (4.3 to 77.7)	33% (4.3 to 77.7)	25% (3.2 to 65.1)	22.2% (2.8 to 60.0)	88% (84 to 92)
FPR (95%CI)	0.9% (0.5 to 1.6)	0.3% (0.15 to 0.5)	0.4% (0.2 to 0.6)	0.4% (0.2 to 0.6)	0.1%
PPV (95%CI)	12.5% (1.6 to 38.3)	12.5% (1.6 to 38.3)	9.1% (1.1 to 29.2)	9.1% (1.1 to 29.2)	NA
NPV (95%CI)	99.7% (99.3 to 99.9)	99.9% (99.8 to 100)	99.9% (99.7 to 100)	99.9% (99.7 to 99.9)
OAPR (95%CI)	2:14 (0.02 to 0.43)	2:14 (0.02 to 0.43)	2:20 (0.01 to 0.32)	2:20 (0.01 to 0.32)

The data analysis were based on: I, sequenced participants only; II, extrapolation to the whole cohort (n = 5083), assuming that there were no further FH mutations present in the not-sequenced participants; III, correction for verification bias; IV, correction for verification bias and misclassification based on a reduced sensitivity of NGS (90%). All values are shown in Supplementary Table 5 and Supplementary Table 6.

MoM = multiple of the median. DR = detection rate. CI = confidence intervals. FPR = false positive rate. PPV = positive predictive value. NPV = negative predictive value. OAPR = odds of being affected given a positive test. NA = not available.