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Re: Genetic testing

Posted By CCF Neurology MD:NT on September 17, 1998 at 21:13:52:

In Reply to: Genetic testing posted by Manny on September 17, 1998 at 08:40:55:

I'm not sure how to keep a stream of q's and A's  going this is regarding my earlier post on center core disease and subsequent questions.  How is genetic testing don? Is it tissue samples blood test  or what? Who does it ?MD Specialist ect? Can the test be done at one place and the results sent to a lab elsewhere such as Washington U in St.Louis? Is there a "panel" of test that could check for other potential neuro disease? Who determines what test should be considered - a genetic specialist? Does genetic testing and chromosone testing the same thing?

Dear Manny:
Genetic testing for a disease of which the gene is known (such as central core disease, the gene of which is the ryanodine receptor gene) just involves a blood draw from the affected individual and from relatives. The blood can be drawn anywhere. It is then sent to one of the few academic laboratories in the world that have a special interest in that specific disorder, or to a commercial laboratory if the test is commercially available. It is my impression that testing for central core disease is not yet commercially available; the research departments that have published the most on the subject are located in Toronto (University of Toronto, Department of Biochemistry) and in Cork, Ireland (University College, Department of Biochemistry). You could address the request for genetic testing of your nephew and relatives to the department that diagnosed his myopathy. I am sure they will be able to communicate with either of the departments that I mentioned above and possibly arrange for it.
There is no "panel" of tests involved here, and the testing is very different from chromosome analysis.
Good luck!
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