Exome sequencing, also called whole exome sequencing, is a test that can analyze thousands of genes all at the same time. Exome sequencing 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 sequencing is most commonly done on a blood sample. To help understand the results, family members may also be asked to provide a sample. Exome sequencing can give 3 types of results: positive, negative, or uncertain.
If you decide to have exome sequencing, you also have the option to learn about secondary findings. Secondary findings can tell you about the chances of certain health concerns 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.
Watch the video to learn more about:
- What exome sequencing is
- What results you can expect from this test
- What decisions you need to make about testing
