Question: We have a long history of VHL in our family. Although we have known of the disease since 1969, when it was first diagnosed in my sister-in-law, we still don’t know how VHL can be recognized in our children without going for all these numerous scans and un-ending sonar screenings. As far as I know, no genetic tests are being done in the Republic of South Africa. How can we get someone in RSA interested in starting such tests? -- Dorie V., Republic of South Africa

Answer: You can inquire of various genetic testing labs in RSA, or you can deal with an experienced VHL testing lab. Unless a center has a number of requests for VHL testing, they are unlikely to want to go to the expense of obtaining the markers that improve the accuracy of testing.

The blood samples do not require refrigeration, but would need to be shipped via a courier service (like DHL) in a special biohazard container, and would need to be delivered within 5-7 days of being drawn. Blood samples coming into the USA require an accompanying letter that the blood has been tested and is negative for infectious diseases, i.e AIDS. Samples get held up at the border and then when they finally arrive are not usable for testing.

For samples from outside the country I generally recommend that DNA is sent because there are no problems with customs. It is usually possible to arrange for the DNA to be extracted at a genetics lab inthe originating country, and the DNA alone can then be sent via regular mail.

-- Lynn Godmilow, MSW, Department of Genetics, University of Pennsylvania School of Medicine, 415 Curie Boulevard, Philadelphia, PA 19104-6145; Tel: +1 (215) 573-9161 or 1-800-669-2172 (US/Canada); Fax +1 (215) 573-5940

As printed in the VHL Family Forum 7:3, September 1999. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.