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
Test Result
Result Meaning
Result Meaning
What it means for you
What it means for you
What it means for your family
What it means for your family
Positive
Positive
You have the FH mutation that runs in your family.
You have the FH mutation that runs in your family.
Medical options are available to reduce your risk of heart disease.
Medical options are available to reduce your risk of heart disease.
Family members who have genetic testing should get tested for the same mutation you have.
Family members who have genetic testing should get tested for the same mutation you have.
Negative with LDL cholesterol <190 mg/dL
Negative with LDL cholesterol <190 mg/dL
You do not have the mutation that runs in your family.
You do not have the mutation that runs in your family.
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.
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.
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.
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.
Negative with LDL cholesterol levels >190 mg/dL
Negative with LDL cholesterol levels >190 mg/dL
You do not have the mutation that runs in your family.
You do not have the mutation that runs in your family.
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.
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.
Other family members could still inherit the mutation and should still be tested for the mutation that runs in 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 Panel. J Am Coll Cardiol. 72:662-680.
Migliara et al. 2017. Familial Hypercholesterolemia: a Systematic Review of Guidelines on Genetic Testing and Patient Management. Front Public Health. 5:252.
National Institute for Health and Care Excellence clinical guideline, “Familial hypercholesterolaemia: identification and management,” published in 2008, updated 2017.