Guest guest Posted January 15, 2004 Report Share Posted January 15, 2004 > Hello to the CF Support Group, > > I'm just curious how many families were diagnosed through Ambry Genetics in CA. > > Henry, 6-year-old with CF, had the basic (I believe, 75 genes tested for) genetic screening from Genzyme in 1998 and was positive for dual DF508. > > Then, years later, I read about Ambry Genetics in a CFF Newsletter article explaining that their genetics test checked for 800-900 of the known CF genes. They the Genzyme test looks for the most common mutations. They first ran the Genzyme analysis on my son and found one common mutation G551D. I insisted on a CF consult with our pediatrician and the CF doctor had the Ambry test run. The Ambry caught the second mutation which was rare. Surprisingly the Ambry test which is based out of CA ( we are in MA) took far less time to get the results back than did the Genzyme test which is based in MA as well. Insurance did pick up the cost for bosth tests. SOmeone in this group wrote me afterwards and said Hopkins has an extensive mutation test as well. jan Quote Link to comment Share on other sites More sharing options...
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