GENETIC METHOD OF AIDING THE DIAGNOSIS AND TREATMENT OF FAMILIAL HYPERCHOLESTEROLAEMIA

摘要

The invention relates to a method for collecting information useful in aiding the diagnosis and treatment of familial hypercholesterolaemia (FH), the method comprising providing a sample of DNA from the subject, assaying said DNA for (i) mutation in one or more genes which is indicative of FH diagnosis (ii) presence of one or more SNPs indicative of incremental risk of high cholesterol; and (iii) mutation in a gene which is indicative of likelihood of statin toxicity; wherein assaying said DNA comprises the step of contacting said DNA sample with one or more primers for amplification and/or sequencing of the relevant segment(s) of said DNA characterised in that each of said assays of steps (i), (ii) and (iii) is carried out in a single assay cycle. The invention also relates to a method of treatment, and to primers.