Test results

What Your Results Mean

The following are possible result outcomes of your genetic test. Regardless of your test results, one of our hereditary cancer specialists will discuss your risk and potential next steps for assessment. Our specialists are trained to interpret your results and to help you make an informed decision about your treatment plan

Positive Test Result

A positive test result means the laboratory found a gene mutation that is associated with a hereditary cancer syndrome. This means that you have an increased risk for cancers seen with mutations in the gene and you will discuss with your Hereditary Cancer Specialist ways to reduce your cancer risk as well as to catch cancer as early as possible.

A positive test result does not indicate that you have cancer or that you will definitely develop the disease. It simply means that you are at an increased risk. Many people who carry a gene mutation live long, cancer-free lives. Genetic testing is a tool that helps others know how to best take care of you. The knowledge that there is a specific genetic mutation within a family is also a valuable tool for its members. It indicates that your children, siblings, etc. can be tested for that mutation to find out if they, too, are at an increased risk.

Negative Test Result

A negative test result means that the laboratory did not find a gene mutation in the genes tested.

Negative test results are most useful in family situations where a gene mutation is already present and known. Testing for a known mutation is very accurate. If someone did not inherit it (are negative), they are not at the increased risk for cancer.

If there is not known gene mutation in your family and a mutation is not found in you, the risk of a hereditary cancer syndrome being in your family is significantly decreased. Your Hereditary Cancer Specialist will discuss what the negative results mean for your particular family history.

Variant of Uncertain Significance

There is a third possible result called a variant of uncertain significance. This result is neither positive nor negative. It occurs in a small percentage of people who undergo genetic testing and indicates a genetic change that may or may not pose an increased cancer risk. Simply put, more information is required.