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Discussion of your genetic tests results is an important part of genetic counseling and your overall evaluation at the Stanford Center for Inherited Cardiovascular Disease.
In many cases the genetic test identifies a mutation that is known to cause the inherited heart condition that is running in your family. In some cases the genetic testing doesn’t find any difference in the DNA at all. This happens because current genetic tests for most inherited cardiovascular conditions are not capable of finding the mutation causing the heart condition in 100% cases. For example, current genetic testing finds a mutation in 75% of cases of long QT syndrome and 50-60% of cases of hypertrophic cardiomyopathy (HCM). Even if the genetic test doesn’t find a mutation, the condition is often still hereditary and other family members are still at risk to develop the condition that’s running in the family.
Sometimes the genetic test results are complex. The genetic testing might find two mutations or it might find a difference in the DNA that is inconclusive. This happens because there is not enough information to know whether the difference in the DNA is one that causes health problems or is a normal difference that doesn’t affect health.
No matter what your genetic test results are, our team will make sure that you, your family, and your doctor understand what the results mean for your care and for the rest of the family