Genetic Counseling Archive Questions

Below are Jessica Rispoli Joines’s answers to Genetic Counseling questions
received through the Ask the Expert feature.

This content is provided for informational purposes only, and is not intended
to be a substitute for individual medical advice in diagnosing or treating a
health problem. Please consult with your physician about your specific health
care concerns.



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Q : 1 02/02/2010

I was wondering where and how to be tested for Von Hippel Lindau. Also, would it be wise to be tested on suspicions stemming from multiple angiomas (brain and kidney), fibromas (gums and arm), fibroids (uterus), lipomas (back), high BP, and now elevated chloride, sodium, 17-ks, 17-ohcs, with over 1 year undiagnosed? I had one positive test and two negative tests for pheochromocytoma and that seems to be ruled out. This is my own suspicion based on other family history as well.If it is worthwhile, how do I bring it up to my doctor so he will do the test? If he refuses, can I get the testing done privately? I would recommend that you speak with your doctor about your concerns and ask for a referral to see a clinical geneticist and/or genetic counselor. A genetic evaluation, which will include a thorough examination of your family history, will help best determine if testing for VHL is appropriate. The genetics office can also assist you with obtaining such testing and discuss with you the pros and cons, as well as the limitation, of this test. We have an adult genetic clinic at the University of Maryland. You can call 410-706-5386 for more information.

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