Quality Assessment of the Genetic Test for Familial Hypercholesterolemia in The Netherlands

Table 1

Baseline characteristics of the participants.

	All
N	1003
Age (±SD) years	49±16
Male gender (%)	523 (52%)
Body mass index (±SD) kg/m^2	25.6±3.9
Medication use at diagnosis (%)	250 (25%)
Tested for mutation (% of total)
LDLR-c.313+1/2	140 (14%)
LDLR-p.S306L	80 (8%)
LDLR-c.1359−1G>A	110 (11%)
LDLR-p.N564H/2393del9bp	317 (32%)
APOB-p.R3527 L/Q/W	348 (35%)
LDLR-c.313+1/2+c.191−2	8 (1%)

Based on the per protocol study population: subjects tested when aged under 18 years were excluded.