Genetic tests are usually done with a blood test. A small sample of blood is taken, DNA is extracted from blood cells, and the Folliculin gene is sequenced to look for a mutation. If a blood test is not an option, cheek swabs can be used in some cases.
Only certified labs can do genetic testing for BHD. Your usual doctor may be able to arrange a genetic test for you, or may refer you to your local Genetics Service. In most cases it is possible to have blood taken at your local hospital or clinic, and the sample can be posted to the appropriate lab for testing.
To find your nearest testing facility please e-mail contact@BHDSyndrome.org
Publication date: December 2014
Review date: May 2021