Cardiovascular genetic testing is a type of medical test that finds changes in genes that can cause inherited heart diseases. The results of a genetic test can confirm or rule out a suspected inherited heart disease in someone, or help determine their chance of developing or passing one on.
This type of genetic testing is usually done using a blood sample, but often saliva samples can be used instead. The DNA in your cells is studied to see if there is a mutation that causes an increased risk to develop heart disease. It is important to meet with a genetic counselor or other healthcare provider to discuss genetic testing before it happens.
When considering cardiovascular genetic testing for your family, it is best for the person that has the condition or is suspected to have it to be tested first; this helps to try to get the clearest answer from the testing. They may get a test that studies many different genes at the same time, which is called a panel test. They may also get testing that only studies one gene. Once a mutation is found in that person, other family members may have genetic testing for the same mutation if they wish. If they find they (“test positive for”) the mutation, they have an increased risk for also developing that heart disease, and they should talk with their doctor about what it means for their medical care. If they find they (“test negative for”) the mutation, they are most likely not at risk for this condition, and do not need to have regular screening for it.