Author: Dr Amanda Hooper

Genetic testing for familial hypercholesterolemia (FH) starts by sequencing specific genes in the person first diagnosed (called the proband or index case). The key genes tested are LDLR, APOB, and PCSK9. Instead of using the word “mutation,” we now use “variant” to describe any change in a gene. Since we inherit two copies of each gene (one from each parent),…