Familial Hypercholesterolaemia is an autosomal, dominant genetic disorder predominantly associated with pathogenic variants in the genes LDLR, ApoB, LDLRAP1 and gain of function variants in PCSK9. Screening typically occurs using the Dutch Lipid Clinic Network, the Simon Broome Register or the Make Early Diagnosis to Prevent Early Death (MEDPED) criteria. Here, LDLR is linked to Hypercholesterolemia.