Selection of individuals for genetic testing for familial hypercholesterolaemia: development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia

Our model showed good discrimination and calibration. We specifically expect our model to be of added value for young persons set against current diagnostic criteria, since LDL-C and age are now used as continuous predictors. The equation will be available as an online calculator to estimate the probability of the presence of an FH mutation in individual patients. This tool might aid physicians in the decision for referral of patients for molecular testing.