What health conditions are associated with pathogenic variants?

In general, genetic tests look for pathogenic variants in your genes. More and more conditions every year are found to be associated with pathogenic variants in specific genes. Oftentimes your healthcare provider will order specific tests for specific genes because your family history indicates possible inherited risk within those genes. If your genetic test finds a pathogenic variant in a gene associated with a health condition, you are considered to have inherited risk or an inherited condition. Many of the syndromes below are hereditary and associated with a higher risk for specific types of cancer or other health conditions.

Direct to consumer genetic tests like 23andMe, AncestryDNA, or MyHeritage does not offer the same types of genetic tests or information as a clinical genetic test ordered through a health care provider. These companies do not look for your specific variant. Your relative should find a genetic counselor to get genetic testing.

Contact your healthcare provider who helped you order the test, typically a genetic counselor or doctor. They may be able to send you a copy of the report or put you in contact with the lab that did your testing.

The cost of genetic testing varies depending on the exact genetic test and genetic testing company. Known mutation testing is usually not as expensive as other types of genetic testing, like genetic panels, and it is generally covered by insurance. Some genetic testing companies offer known mutation testing for relatives at a reduced price. You can find more information on this page.

There is no age limit for genetic testing. However, the American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics (AAP) recommend that genetic testing for adult-onset conditions (like cancer) should be deferred until adulthood. Your relatives should talk to a genetic counselor to help them decide if and when they want to get tested.

A variant is a genetic change that may have consequences for health or disease risk. 

See the What is My Variant page for more information.

Below, you will find resources about heritable conditions and their associated genes.