Invoice

Characterisation of germline variants causing familial hypercholesterolaemia (which must include the LDLR, PCSK9 and APOB genes), requested by a specialist or consultant physician, for a patient: (a) for whom no familial mutation has been identified; and (b) who has any of the following: (i) a Dutch Lipid Clinic Network score of at least 6; (ii) an LDL-cholesterol level of at least 6.5 mmol/L in the absence of secondary causes; (iii) an LDL-cholesterol level of between 5.0 and 6.5 mmol/L with signs of premature or accelerated atherogenesis Applicable only once per lifetime