If known FH-causing mutation

What the test results mean for you and your family if the FH-causing mutation in your family has been found through genetic testing and you were tested for that mutation

Test Result

Result Meaning

What it means for you

What it means for your family

Test Result

Positive

Result Meaning

You have the FH mutation that runs in your family.

What it means for you

Medical options are available to reduce your risk of heart disease.

What it means for your family

Family members who have genetic testing should get tested for the same mutation you have.

Test Result

Negative with LDL cholesterol <190 mg/dL

Result Meaning

You do not have the mutation that runs in your family.

What it means for you

You are not at higher risk for high cholesterol than the average person. You cannot pass the mutation on to your child. If you have LDL cholesterol levels higher than 100 mg/dL, you may be at risk for heart disease from other factors.

What it means for your family

Your children cannot inherit the mutation that runs in your family and do not need to be tested. Other family members could still inherit the mutation and should be tested for the mutation that runs in your family.

Test Result

Negative with LDL cholesterol levels >190 mg/dL

Result Meaning

You do not have the mutation that runs in your family.

What it means for you

Your high cholesterol levels are not due to the FH-causing mutation that runs in your family. You might have a different FH mutation and further testing might be needed. If you have FH, medical options are available to reduce your risk of heart disease.

What it means for your family

Other family members could still inherit the mutation and should still be tested for the mutation that runs in your family.

References:

Sturm AC et al. 2018. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panelexternal icon. J Am Coll Cardiol. 72:662-680.

Migliara et al. 2017. Familial Hypercholesterolemia: a Systematic Review of Guidelines on Genetic Testing and Patient Managementexternal icon. Front Public Health. 5:252.

National Institute for Health and Care Excellence clinical guideline, “Familial hypercholesterolaemia: identification and management,”external icon published in 2008, updated 2017.

FH Foundationexternal icon

Page last reviewed: March 17, 2020