In many patients, the risk of cardiovascular disease (CVD) may be attributed to genetic polymorphisms and mutations. Quest Diagnostics offers cardiogenetic testing to aid in early diagnosis and earlier treatment for affected patients, as well as family members.
Familial hypercholesterolemia (FH) refers to a group of genetic defects resulting in severe elevations of blood cholesterol levels and increased risk of premature coronary heart disease (CHD). These defects are found in the FH genes that encode for low density lipoprotein receptor (LDLR), Apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9), and possibly others.
Today, FH is generally underdiagnosed and undertreated. With the help of genetic testing, you can change that trend. Genetic testing for FH from Quest detects mutations on the LDLR, ApoB, and PCSK9 genes to enable an early, specific diagnosis of FH.
Cardiogenetic testing helps provide deeper insight into genetic risk of CVD as well as therapy selection.