Carrier testing is a genetic test to see if you are a carrier of an autosomal recessive or X-linked genetic condition. A carrier is a person who has a pathogenic variant in a gene but does not typically show symptoms of the genetic condition themselves.

For most genes, being a carrier does not have any personal health risks, but it does mean you can pass the pathogenic variant down to your children. You can use the information from carrier testing for reproductive planning.

Carrier testing is offered to people who have a family history of a genetic condition and to their partners. Carrier testing is generally only done in adults. X-linked carrier testing is only done in people assigned female at birth.

Carrier testing is most commonly done on a blood or saliva sample.

There are 3 types of results that you can receive from carrier testing for a genetic condition:

• A positive result means a pathogenic variant was found and you are a carrier for that condition.
• A negative result means that no pathogenic variants were found, and you are not a carrier for that condition.
• An uncertain result means that a variant was found, but we do not know if it is a pathogenic variant. If you have an uncertain result, your clinician will talk to you about it further.