When considering genetic testing for your family, it is best for the person that has the heart 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 genetic test that studies many different genes at the same time, which is called a panel test. They may also get genetic 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 family members find they “test positive for” the same mutation, they have an increased risk for also developing that heart condition, and they should talk with their doctor about what it means for their medical care. If family members find they “test negative for” the same mutation, they are most likely not at increased risk for the heart condition, and do not need to have regular screening for it.
Genetic testing has pros and cons. Learning information from genetic testing can cause worry and anxiety for some. Please talk to your doctor or genetic counselor about any questions or concerns you have before you have genetic testing, and during the process.