I had asked my neurologist about DNA testing for VHL over a year ago. He told me there were only a few labs in the country that did this test. At the time they supposedly sent the sample to a lab in Boston. A year later I was still waiting for the results. Every time I called the doctor, he said the results were not back yet.

In April of this year, we drew the blood again. This time I had to sign a consent form and fill out forms about my family. The blood was sent to the University of Pennsylvania Medical Center and I received the results in about two weeks. My neurologist called to tell me the results were negative and I received a followup letter from the lab explaining the results. I was able to tell my father that I do not have the VHL gene and his grandchildren will need no testing before he passed away from VHL complications on May 1. My older brother passed away from the disease in 1978 at the age of 25.

-- Debra R., Connecticut

Response:

We are sorry to hear of your father's passing, but delighted to hear that you and your children tested negative. The labs at the University of Pennsylvania and the University of Padua in Italy have the highest reliability ratings for VHL testing in the world.

[Editor's note: Dr. Rocha's lab in Brazil has achieved this same high rating in December 2000. Please see notations on the list Sources of DNA Testing.]

There are two changes we would recommend to others seeking DNA testing:

(1) Submit samples to a clinical lab, not a research lab. The lab in Boston is a university research lab that does not promise a particular turn-around time. At this point you can obtain DNA testing for VHL from a clinical lab that provides the same kind of timely service that a doctor would expect from a Complete Blood Count or other routine clinical test. Debra subsequently received the results from Boston University, 14 months after submission.

[Editor's note December 2000: Boston University advises that they are now a clinical lab, but they are still estimating three months' turn-around for VHL testing.]

(2) Submit samples through a geneticist. While you have a relationship with the neurologist (or neurosurgeon or urologist) and those physicians are certainly very skilled professionals in their own specialties, they are probably not best equipped to explain to you the details of what the results actually mean to you and your family. The letter from the lab has the scientific details, but there will be other questions that they and the lab are not staffed to answer.

Having been through this with a large number of families, our best advice is that you meet with a genetics professional (geneticist or genetic counselor) before submitting the samples. Unlike a simple blood test, there are emotional and insurance implications surrounding DNA testing which a genetics professional is better prepared to deal with. (For example: it's a good idea to make sure you or your child have a life insurance policy before doing a DNA test so that you can truthfully say that you have not tested positive for VHL.)

Look for a genetics professional associated with the departments of pediatrics or obstetrics, and inquire about someone who specializes in hereditary cancer syndromes. Someone with this specialty will be able to work with you through your questions about the inheritance of VHL.

As printed in the VHL Family Forum 8:4, December 2000. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.