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.
Genetic testing can be fairly costly, ranging from several hundred to over a thousand US dollars, depending on the lab running the test. Who pays for the test will depend on your public healthcare system or your insurance plan. Once a specific mutation in the BHD gene has been found, testing is cheaper for other family members as they can be tested just for that specific mutation.
To find your nearest testing facility please e-mail contact@BHDSyndrome.org and we will put you in touch with your nearest lab.
Publication date: December 2014
Review date: December 2017