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ASXL1 mutation
My husband had the new Next-Gen MDS Molecular Profile done from Genoptix. I don't know if other labs do it or not. It tests the five genes most likely to show mutation in MDS that would affect prognosis. The five genes were ASXL1, RUNX1, EZH2, ETV6, and TP53 and shows the mutations detected and if they are clinically significant.
I researched all the genes but it is a lot to go through. It seems not just the different genes/mutations are important but the mixture of the mutations can be too. If your insurance will cover it, it did explain things much better than a regular BMB. It can test from just a blood draw - no bone marrow.
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Liz, wife of Bob (64) dx 11/2012 RAEB II now 15% blasts rare t(1;3)(p36.3q21) Vidaza, Aranesp, Exjade
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