HCM All Hearts Diagnostic Tools

In genetic testing, a blood or saliva sample is collected to test whether the person has genetic mutations known to be linked to a particular disease.

Some heart problems run in families, and a genetic test can help find family members at risk for developing the family heart disease. Genetic testing is only recommended for heart problems known to have a genetic basis.

WHAT DO GENETIC TESTS MEAN?
The genetic tests used ask a very simple question: Certain mutations can cause heart problems. Which of these mutations (if any) does the person being tested have?

Knowing the answer is really useful for identifying relatives who are at risk for developing heart disease. By "relatives," we mean children, siblings, or parents - these tests are less useful for more distant relatives like cousins or grandparents. If the test identifies a mutation known to cause heart disease, your relatives can easily be tested for the same mutation. Those who also have the mutation can be followed up carefully. Relatives who don't have this mutation may never develop the family heart disease.

WHAT DO GENETIC TESTS NOT MEAN?
A negative genetic test result does not clear you or your family of heart disease. For some diseases that clearly run in families, not all of the gene mutations that promote that disease have been found. Some heart diseases do not have a genetic basis, and you or your family members could develop them. Your genetic test may not change your diagnosis, but it can clarify if you have a disease that looks like another heart problem. If your doctor feels that genetic testing could change your treatment, they will recommend genetic testing.

WHAT DOES THE TEST INVOLVE?
For this test, a saliva sample or vial of blood is collected either at a clinic or local lab. They may send the test to a central facility for processing. DNA is extracted from the blood to analyze genes where mutations are linked to your heart disease. The patient's genes are compared to genes of normal and heart disease patients from a database.

Genetic testing is only recommended to patients who have a type of heart disease known to have a genetic basis.