Quality Assessment of the Genetic Test for Familial Hypercholesterolemia in The Netherlands
Table 2
Clinical characteristics of participants of interest.
ID
Sex
Age
Medication use
TC (perc.)
HDL (perc.)
LDL (perc.)
TG (perc.)
Mutation tested
Initial finding#
End conclusion*
A
Male
43
Simva 40
6.33 (86)
0.59 (<5)
3.87 (67)
4.09 (>95)
p.N564H/2393del9bp
Absent > present
Carrier
B
Female
65
Simva 40
4.26 (<5)
0.80 (<5)
2.80 (<5)
3.02 (>95)
p.N564H/2393del9bp
Present > absent
Noncarrier
C
Male
54
No
5.92 (68)
1.55 (93)
3.36 (36)
2.20 (83)
p.N564H/2393del9bp
Absent
Noncarrier
D
Male
55
No
4.86 (24)
1.50 (82)
2.64 (10)
1.56 (62)
p.S306L
Absent
Noncarrier
E
Female
56
No
4.05 (<5)
2.22 (91)
1.61 (<5)
0.50 (<5)
p.N564H/2393del9bp
Absent
Noncarrier
F
Male
54
No
5.17 (37)
1.14 (51)
3.42 (39)
1.32 (41)
c.313+1G>C
Present
Noncarrier
G
Male
38
No
3.20 (<5)
1.33 (82)
1.22 (<5)
1.41 (57)
p.R3527W
Present
Noncarrier
H
Female
65
Rosuva 40 + Ezetimibe 10
3.09 (<5)
0.84 (<5)
1.49 (<5)
1.66 (69)
p.R3527W
Present
Carrier
I
Female
58
Simva 40
6.15 (61)
1.81 (70)
3.76 (51)
1.27 (50)
c.313+1G>C
Present
Carrier
J
Male
26
No
7.00 (>95)
1.71 (>95)
4.88 (>95)
0.89 (39)
p.S306L
Present
Carrier
K
Female
35
No
n.p.
n.p.
n.p.
n.p.
p.R3527Q
Present
Carrier
L
Male
18
No
n.p.
n.p.
n.p.
n.p.
p.R3527Q
Present
Carrier
M
Male
32
Rosuva 40
5.34 (69)
0.90 (16)
4.15 (88)
0.61 (9)
c.1359−1G>A
Absent
Noncarrier c.1359-1, carrier c.313+1G>A
N
Male
68
Atorva 80 + Ezetimibe 10
5.37 (44)
1.09 (33)
3.68 (45)
1.30 (53)
c.313+1G>A
Present
Carrier 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).
