Thread: Gene Testing?
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Old Mon Jun 20, 2011, 06:18 PM
Lisa V Lisa V is offline
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Join Date: Aug 2006
Location: Waimanalo, Hawaii
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Did the doctor say what kind of "gene testing", Lori? There are a number of different things that could be called that, including the usual cytogenetics test that Greg and Berry mentioned. Everyone gets that as part of the BMB. It's impossible to make an accurate diagnosis without it.

Additionally, some patients (particularly younger ones) may be tested for Fanconi's Anemia, in order to determine if they have a hereditary condition rather than an acquired one. FA symptoms may look like AA symptoms, but the treatment is different, so it's important to rule that out.

There are also tests for telomere length, as shortened telomeres (the end part of the chromosome) may also be hereditary, and may be a predictor of premature aging, as well as how well certain treatment options are likely to work. This is not a common test, at least not yet. I think the NIH is doing it, but I'm not sure if too many other medical centers are.

Then of course there is the DNA testing that must be done to determine whether or not you have a potential marrow donor. Anyone considering the possibility of a transplant has to have this done, and some doctors will order it as a matter of course.

There are probably others that I forgot, but these are some of the possibilities that come to mind.
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-Lisa, husband Ken age 60 dx SAA 7/04, dx hypo MDS 1/06 w/finding of trisomy 8; 2 ATGs, partial remission, still using cyclosporine
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