The only definitive way to know if you have BHD is to have a genetic test to look for mutations in the Folliculin gene.

If you answer yes to any of these questions, you should talk to your doctor about getting a genetic test for BHD. Also, if any of your first degree relatives (a parent, child or sibling) is diagnosed with BHD, you should also talk to your doctor about getting a test, even if you don’t have any symptoms at the moment.

If you have BHD, your blood-relatives – particularly first degree relatives but also extended family such as grand-parents, nieces, nephews, uncles, aunts and cousins – should consider getting tested, especially if they have any BHD symptoms.

If you think you may have BHD syndrome, we urge you to talk to a doctor about this. This could be your local doctor or a specialist. Your doctor can help you arrange a genetic test and the test is easy and painless. How much the test costs and who pays will depend on your public healthcare system, your insurance plan and which lab does the test.

Last Updated:May 2021
Review date: May 2024