Who should be tested for BHD?

If anyone in your family has the Birt-Hogg-Dubé syndrome, you could also have it. Anyone who is a parent, child or sibling (a first degree relative) of someone with BHD is at risk. Anyone who is a second degree relative of someone with BHD is also at risk; this includes grandparents, grandchildren, aunts, uncles and cousins.

If you think you may have BHD, we urge you to discuss this with a doctor. This could be your primary care physician, 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.

We believe that it is important to be tested because once you know you have BHD, you will know to monitor your health for the rest of your life. You’ll be able to react quickly and appropriately if you need medical attention. Since having the Birt-Hogg-Dubé syndrome does put you at risk for kidney tumors, it is important that you be checked regularly. This should enable you to manage the symptoms and to go on with your life. You may want to read our sections on Insurance and Genetic Counseling before ordering your test.

The only way to know if you have BHD is by having the gene test. If you are at risk for BHD and do not have any skin symptoms, this does not mean you don’t have BHD. If you have never had a spontaneous pneumothorax or any kidney tumors, you could still have BHD, and your children may have it.

Once the first person in a family has been tested and the family gene mutation has been identified, other family members need only be tested for that particular mutation. This is less expensive than the first test.

The BHD gene has been identified, so technically any qualified lab 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. We include contact information for two labs in the U.S. at the bottom of this page.

For the DNA test, you can go to a doctor to have blood drawn, and your doctor can arrange to have it sent for testing. When blood is used, time is of the essence because the blood has to arrive at the lab in a specified time frame.

Alternatively, you can order a kit with a buccal swab from Gene Dx (think of a sponge lollipop= that’s what this looks like). You swirl it against your cheek, put it in the container you received with the kit, and send it in for testing.

You will get a result telling you if you have such the Birt-Hogg-Dubé gene alteration, and what your particular mutation is. If you have BHD, the results will be positive.

This is a fairly costly procedure; it is currently (2008) over $1600 most places if you pay for it yourself.

Once a family member has been diagnosed with BHD, it is possible for other family members to be tested for that person specific mutation only, in order to confirm the presence or absence of BHD. A separate mutation test is less costly than a gene test; the price for this is currently (2008) several hundred dollars.

The results will not be sent directly to you, even if you request that this happen. They will be sent to your doctor.

Steps to get tested for BHD:

Blood test

1. Contact your doctor. (This can be your primary care physician, or a specialist who is helping you with your BHD symptoms.)
2. Ask your doctor to arrange to draw 5ml blood (one small tube). The information you got from the lab will have details about how to have the blood shipped overnight, and your doctor should be familiar with this type of procedure.

If you would like more specific instructions about how to do this, the lab can fax them to you, either to your home or to the doctor´s office.

The instructions will include the lab protocol, which contains sample requirements, shipping instructions, and the paperwork needed to order the test.

Buccal (cheek swab)

1. Contact the lab to see if they will do a buccal swab test. Ask them to send you the test kit and information.
2. Swab your cheek (imagine swiping the inside of your cheek with a cotton swab.) Put the swab in the container and mail it to the lab.

A buccal swab test does not have to pass the same customs regulations that fresh blood does.

Payment

This lab does not contact your insurance company for you, or arrange for payment by your insurance company. You will be given an invoice that you can send to the insurance company so you can be reimbursed.

Lab Contact Information

We recommend the following labs:

Molecular Genetics Laboratory
Children´s Hospital of Philadelphia
Abramson Research Center, Room 714G
3615 Civic Center Boulevard
Philadelphia, PA 19104
Tel: 215-590-8736
Fax: 215-590-2156
Contact: Catherine A. Stolle, Ph.D.
Director

The Molecular Genetic Laboratory does do tests for people outside the US; email stolle@email.chop.edu.
This lab is College of American Pathologist (CAP) accredited and CLIA certified. http://www.cms.hhs.gov/clia/.

Gene Dx
DNA Diagnostic Services
207 Perry Parkway
Gaithersburg, MD 20877
Tel.: 301 519 2100
Fax: 301 519 2891
www.genedx.com
Contact: genedx@genedx.com

Birt-Hogg-Dubé information and current prices at Gene Dx

Gene Dx does do tests for people outside the US; email genedx@genedx.com with questions.

Prenatal and Preimplantation Genetic Diagnosis

The intention of the Birt-Hogg-Dubé Family Alliance is to provide information to those affected by the BHD syndrome. It is up to each individual to decide if or how to use this information. We are neither recommending nor criticizing any of the following, just providing for your consideration. Before you make any decision about prenatal diagnosis or preimplantation diagnosis, we strongly suggest seeing a genetic counselor for guidance.

Prenatal Diagnosis (PND)

It is possible to test for mutated genes during pregnancy and to find out if the child has the Birt-Hogg-Dubé syndrome before the child is actually born. If you are researching this option, you may see it called prenatal testing or prenatal genetic diagnosis as well.

If one of the parents has BHD, then every child they have has a 50 % chance of also having BHD. By testing before birth, parents would know if the child has inherited the Birt-Hogg-Dubé syndrome from the affected parent. As of 2008, the most common manifestations of BHD – skin lesions, lung cysts and kidney cancer – have not been found in children during their early childhood or childhood years. Should it be determined during pregnancy that a child has BHD, it is not currently possible to know or predict which symptom or combination of symptoms a child with BHD will have. Currently the first recommended screening of people who have an identified case of Birt-Hogg-Dubé would start at age 21.

To perform a prenatal test, the lab will require a specimen from the parent who has BHD, and a maternal specimen. A sample of this procedure is found at the Gene DX website. You will need to work with a doctor in order to obtain the test samples required. The lab will provide you and your doctor with specific instructions.

In most cases, the test can be done at 10-12 weeks into the pregnancy by chorionic villous sampling (CVS). Another alternative is amniocentesis, which in most cases is done at 15-18 weeks.

Prenatal diagnosis is not available in every country. Consult your doctor if you would like to locate a lab that does prenatal testing. Genetic counselors will also be able to help you to locate labs. As we become aware of laboratories in different countries that will undertake prenatal testing , we will add them to our list.

Your health insurance may or may not cover this procedure; it is always a good idea to check ahead of time.

Preimplantation Genetic Diagnosis (PGD)

PGD is a procedure that takes place before a pregnancy. It can be an alternative to prenatal diagnosis (PND) and is not as widely available. Different countries have different legal positions on PDG, and the ethics of this procedure have been widely debated. Seeing a geneticist or a genetic counselor before choosing a Preimplantation Genetic Diagnosis may be required and is certainly recommended.

Preimplantation Genetic Diagnosis may be considered as a step in the in vitro fertilization (IVF) process. This procedure is not standard for all people who are considering IVF, but would be used only if the parents wished to know if an embryo had a genetic mutation or not. Some couples that know one of them has a hereditary or genetic condition choose to have embryos tested for mutations before they are implanted in the uterus.

Have any outsanding questions or issues you’d like to discuss? Why not post on our forum for some advice?

Sources

Prenatal Diagnosis (PND)

• UK. Prenatal testing is an option in families with diagnosed hereditary syndromes. Patient UK.
• Denmark. Prenatal diagnosis is available. Fosterdiagnostik.
• The Netherlands.
• United States. Prenatal Testing for BHD: Gene DX.

Preimplantation Genetic Diagnosis (PGD)

• The Netherlands. In Vitro Fertilization with Preimplantation Genetic Screening.
• United States. Preimplantation Genetic Diagnosis Labs
• Preimplantation Genetics and BHD.
• Preimplantation Diagnosis.
• Choosing between Possible Lives: Law and Ethics of Prenatal and Preimplantation Genetic Diagnosis R. Scott Hart Publishing: Oxford and Portland, Oregon, 2007