Exome testing, also called exome sequencing or whole exome sequencing (WES), is a test that can analyze thousands of genes all at the same time. Exome testing can look at more information, and faster, than most other types of genetic tests. Your doctor may suggest this test to look for a cause for your or your child’s health concerns.

Exome testing is most commonly done on a blood sample. To help understand the results, family members may also be asked to provide a sample.

Exome testing can give 3 types of results:

• Positive: The test found a genetic cause for your or your child’s health concern. In most cases, a positive result will also tell you how the health concern may be passed down in your family.
• Negative: A negative result, also called an uninformative result, means that the test did not find a genetic cause for the health concern.
• Uncertain: An uncertain result means that a genetic difference was found that is not well understood. It may or may not explain the health concern. If you have an uncertain result, your healthcare team will discuss possible next steps to try to better understand this result.

If you decide to have exome testing, you also have the option to learn about secondary findings. Secondary findings can tell you about the chances of certain genetic conditions that may develop in the future. Secondary findings are optional. You do not need to say yes to secondary findings to have the exome test done. Your genetics team is here to answer your questions and help you decide what testing is right for you.