This guide gives patients and their families information about Whole Exome Sequencing (WES). WES is a genetic test that looks at the genetic information contained in all of our 20,000 genes (and their multiple exons) in one single test.
Genetic testing can help:
- Make or confirm a diagnosis
- Make informed medical decisions about your, or your child’s, current and future health care
- Decide on a personalized treatment and care plan
- Make decisions about family planning for yourself or for other family members
- Give other family members the opportunity to learn their genetic status
Who should have WES?
WES can be done during pregnancy, in childhood or in adulthood. It is usually done for one or more of the following reasons:
- You are (or your child is) suspected to have a genetic condition
- There are many different genes that can cause your (or your child’s) symptoms
- You (or your child) have a complicated medical history that affects many organs and/or body systems
- You (or your child) have had genetic testing in the past but the results were normal
Read more about the benefits and limitations of WES in addition to WES Frequently Asked Questions here.