Table 2: Clinical characteristics of participants of interest.

IDSexAgeMedication useTC (perc.)HDL (perc.)LDL (perc.)TG (perc.)Mutation testedInitial finding#End conclusion*

AMale43Simva 406.33 (86)0.59 (<5)3.87 (67)4.09 (>95)p.N564H/2393del9bpAbsent > presentCarrier
BFemale65Simva 404.26 (<5)0.80 (<5)2.80 (<5)3.02 (>95)p.N564H/2393del9bpPresent > absentNoncarrier
CMale54No5.92 (68)1.55 (93)3.36 (36)2.20 (83)p.N564H/2393del9bpAbsentNoncarrier
DMale55No4.86 (24)1.50 (82)2.64 (10)1.56 (62)p.S306LAbsentNoncarrier
EFemale56No4.05 (<5)2.22 (91)1.61 (<5)0.50 (<5)p.N564H/2393del9bpAbsentNoncarrier
FMale54No5.17 (37)1.14 (51)3.42 (39)1.32 (41)c.313+1G>CPresentNoncarrier
GMale38No3.20 (<5)1.33 (82)1.22 (<5)1.41 (57)p.R3527WPresentNoncarrier
HFemale65Rosuva 40 + Ezetimibe 103.09 (<5)0.84 (<5)1.49 (<5)1.66 (69)p.R3527WPresentCarrier
IFemale58Simva 406.15 (61)1.81 (70)3.76 (51)1.27 (50)c.313+1G>C PresentCarrier
JMale26No7.00 (>95)1.71 (>95)4.88 (>95)0.89 (39)p.S306LPresentCarrier
KFemale35Non.p.n.p.n.p.n.p.p.R3527QPresentCarrier
LMale18Non.p.n.p.n.p.n.p.p.R3527QPresentCarrier
MMale32Rosuva 405.34 (69)0.90 (16)4.15 (88)0.61 (9)c.1359−1G>A AbsentNoncarrier c.1359-1, carrier c.313+1G>A
NMale68Atorva 80 + Ezetimibe 105.37 (44)1.09 (33)3.68 (45)1.30 (53)c.313+1G>A PresentCarrier of both c.313+11G>A and p.R3527Q mutations

Initial finding indicates the conclusion after the initial test by the reference laboratory only. *End conclusion on mutation carriership was defined by the end result of the gold standard test in this study, which was the conclusion based on results from analyses in the reference laboratory and the counter-expertise laboratory. Abbreviations: TC: total cholesterol, HDL: high-density lipoprotein cholesterol, LDL: low-density lipoprotein cholesterol, TG: triglycerides, Perc.: percentile for age and sex. Simva: simvastatin, Rosuva: rosuvastatin, n.p.: not performed (lipid profile not measured because subject was not in fasted state).