Who should be tested for BHD?
If anyone in your family has Birt-Hogg-Dubé syndrome, you could also have it. Anyone who is related to someone with BHD syndrome (e.g. a parent, grandparent, child, grandchild, sibling, uncle, aunt, cousin) might also have BHD themselves.
If you think you may have BHD syndrome, we urge you to discuss this with a doctor. This could be your local doctor or a specialist. Your doctor can help you arrange to be tested for the altered BHD gene. The test is easy and painless, and in most cases is covered by insurance or, in relevant countries, the public health system.
Why should I be tested for BHD?
We believe that it is very important to be tested for BHD. Once you are sure you have the syndrome, you will know to monitor your health closely for the rest of your life; you will be aware of symptoms to look out for and will be able to react quickly and appropriately if you need medical attention. Since having Birt-Hogg-Dubé syndrome increases the risk for kidney tumours, your kidneys will be regularly checked. Confirming you have BHD syndrome also allows you to alert family members to their risk.
The only way to know if you have BHD is by having the genetic test. If someone in your family has BHD syndrome, and you do not have any skin, lung or kidney symptoms, this does not mean you do not have it. You should still have the genetic test if BHD syndrome is in your family.
Where do I go for a genetic test? What will happen?
The gene related to BHD syndrome has been identified (Folliculin), so qualified genetic testing labs can check your DNA to see if you have an alteration in this gene. However, not all labs that offer genetic testing currently test for the Birt-Hogg-Dubé gene mutation. For more information, or to find your nearest genetic testing lab, e-mail contact@BHDSyndrome.org.
If possible, the easiest option may be to arrange for a test with your doctor. You will usually have a small sample of your blood drawn and your doctor will send it for testing to an appropriate genetic testing lab.
Alternatively, you can organise the test yourself by ordering a kit from a genetic testing company, which is sent to you in the post. The test is usually a buccal (cheek) swab which can easily be performed at home. Although this is a very easy procedure, actually testing for a mutation in the BHD syndrome gene is fairly costly, ranging from several hundred to over a thousand US dollars. Once a family member has been diagnosed with BHD syndrome, and the specific mutation in the BHD gene has been identified, other members of the family can be tested more cheaply.
Steps to get tested for BHD in the USA:
- Contact your doctor. This can be your local doctor, or a specialist who is helping you with your BHD symptoms.
- Ask your doctor to arrange to draw a small amount of blood. Your doctor will be familiar with this type of procedure.
- Your doctor will send the blood to a genetic testing lab. If there is no lab in your area which tests for BHD syndrome, you may wish to contact BHD specialists at the NIH in the Washington, D.C. area. For more details, email contact@BHDSyndrome.org.
Steps to get tested for BHD in the UK:
- A BHD diagnosis will involve a referral from your general practitioner (GP) to a Medical Genetics Clinic and is free on the National Health Service (NHS).
- Alternatively you can contact the BHD specialist health care professionals directly, who are located in Birmingham. E-mail contact@BHDSyndrome.org for more information.
- Your GP or the BHD specialists will organise a genetic diagnosis for you, and will ask for information regarding your family history and possible routes of surveillance for yourself and other family members.
- Genetic diagnosis of BHD syndrome will involve providing a blood sample which is then analysed by a molecular diagnostic laboratory.
What happens after the genetic test?
Confirmation that you have BHD syndrome can lead to lots of questions and it is natural to have concerns after a positive diagnosis. You will be able to discuss these concerns with either your family doctor, or with the clinical geneticists who handled your diagnosis – whoever you feel more comfortable with.
Clinical geneticists will probably not be specialists in the field of BHD syndrome, but they will have been trained to deal with the issues arising from a positive diagnosis of a genetic disease such as BHD syndrome.
They can help individuals explore what it means to have BHD syndrome on a personal level, and can also assist in discussing the wider implications of a positive diagnosis of a genetic disease. This may include family planning issues or help in identifying family members who may also have BHD syndrome.
A study in 2008 in the USA looked at 98 BHD patients and found a mutation in the BHD gene in 88% of them (Toro et al., 2008). This means that a very small proportion of BHD patients have no identifiable mutation. It may be that the mutation was not detected in the test or that these patients have a mutation in another unknown gene that also causes BHD syndrome. Your doctor will discuss these options with you if no mutation is found after the genetic test.
For more information regarding family planning if you have BHD, see the section on Prenatal and Pre-implantation Genetic Diagnosis.
Do you have any outstanding questions or issues you’d like to discuss? Why not post on our forum for some advice?
- A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome. Bessis D, Giraud S, Richard S. Br J Dermatol 2006; 155: 1067–69.
- Mutations of the Birt-Hogg-Dubé gene in patients with multiple lung cysts and recurrent pneumothorax. Gunji Y, Akiyoshi T, Sato T, Kurihara M, Tominaga S, Takahashi K, Seyama K. J. Med. Genet. 2007; 44: 588-593.
- BHD mutations, clinial and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports. Toro JR, Wei M-H, Glenn GM, et al. J Med Genet 2008; 45: 321–31.
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