Genetic Testing for Familial Hypercholesterolemia

Most people with a personal or family history of heart disease or high blood cholesterol do not have FH, so genetic testing will not help them. Genetic testing for familial hypercholesterolemia (FH) looks for inherited genetic changes in three different genes (LDLR, APOB, and PCSK9) known to cause FH. If your doctor suspects that you have FH or a family member has been diagnosed with FH, your doctor may refer you for genetic counseling and testing for FH. If possible, testing in your family should start with someone with signs of FH. If you decide to get genetic testing, a lipid specialist or genetic counselor can help you understand your test results.

Genetic testing finds the mutation causing FH in about 60-80% of people thought to have FH. Some mutations that cause FH remain unknown. This means that some people with FH will have a mutation that is not found through genetic testing. Finding a mutation is not required for diagnosing FH.

Genetic Testing Results

Interpretation of genetic testing results may differ, depending on whether or not someone in your family has already had an FH-causing mutation found through genetic testing. If the FH-causing mutation that runs in your family is known, you should be tested for that mutation.

Page last reviewed: March 17, 2020