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
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 a mutation known to cause FH.
You have a mutation known to cause FH.
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 cholesterol <190 mg/dL
Negative with cholesterol <190 mg/dL
The test did not find a mutation that is known to cause FH.
The test did not find a mutation that is known to cause FH.
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.
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.
Genetic testing in your family members should ideally start with someone who has signs of FH.
Genetic testing in your family members should ideally start with someone who has signs of FH.
Negative, with LDL cholesterol >190 mg/dL
Negative, with LDL cholesterol >190 mg/dL
The test did not find a mutation that is known to cause FH.
The test did not find a mutation that is known to cause FH.
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.
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.
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.
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.
Variant of Unknown Significance (VUS)
Variant of Unknown Significance (VUS)
The test found a mutation in one of the genes related to FH, but whether that specific mutation causes FH is unknown.
The test found a mutation in one of the genes related to FH, but whether that specific mutation causes FH is unknown.
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.
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.
Family members typically should not be tested for a VUS until we learn whether or not it causes FH.
Family members typically should not be tested for a VUS until we learn whether or not it causes FH.