Familial variant testing is a test that is possible only after someone in your family had a genetic test that found a pathogenic variant in an important health gene. If a pathogenic variant has been found in your family, then you and all your biological relatives can have a familial variant test to see if you also have this pathogenic variant. This will tell you if you have or are at risk of getting the genetic health condition.

Familial variant testing only looks to see if you have the same pathogenic variant that was found in your family member.

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

There are 2 types of results that you can get with familial variant testing:

• Positive: The pathogenic variant found in your family member was also found in you. This means that you may have the genetic condition or have a chance of developing the genetic condition.
• Negative: The pathogenic variant found in your family member was not found in you. This greatly reduces your chance of developing the health (or development or learning) concerns caused by the genetic condition. A negative result does not mean that you will never get the health concerns caused by the genetic condition. Familial variant testing only looks for the pathogenic variant in your family, so you still have the same chance for getting the health concerns as the overall population.