If no known FH-causing mutation

What genetic testing results mean for you and your family if the following both apply:

  • You have genetic testing because you show signs of FH or have a strong family history of heart disease. If possible, the first person tested in your family should be someone with signs of FH.
  • No one in your family has already had an FH-causing mutation found through genetic testing.

Test Result

Result Meaning

What it means for you

What it means for your family

Test Result

Positive

Result Meaning

You have a mutation known to cause FH.

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 cholesterol <190 mg/dL

Result Meaning

The test did not find a mutation that is known to cause FH.

What it means for you

Results are considered uninformative. If a mutation runs in your family, the negative result could mean that either you did not inherit the mutation or the test did not include it. You are still considered at increased risk for heart disease that runs in your family. Talk to your doctor about steps you can take to prevent heart disease.

What it means for your family

Genetic testing in your family members should ideally start with someone who has signs of FH.

Test Result

Negative, with LDL cholesterol >190 mg/dL

Result Meaning

The test did not find a mutation that is known to cause FH.

What it means for you

Finding a mutation is not required for an FH diagnosis. About 20-40% of people with FH have negative genetic testing results. Your cholesterol levels, family health history, and physical signs can be enough for an FH diagnosis. If you have FH, medical options are available to reduce your risk of heart disease.

What it means for your family

Genetic testing in your family members is unlikely to be helpful unless another family member has FH or a known FH mutation. Family members can still be checked using cholesterol measurements and physical exams.

Test Result

Variant of Unknown Significance (VUS)

Result Meaning

The test found a mutation in one of the genes related to FH, but whether that specific mutation causes FH is unknown.

What it means for you

You are still considered at risk if heart disease runs in your family. You could still be diagnosed with FH depending on your cholesterol levels, family health history, and physical signs. If you have FH, medical options are available for to reduce your risk of heart disease.

What it means for your family

Family members typically should not be tested for a VUS until we learn whether or not it causes FH.

Page last reviewed: March 17, 2020