Question about JAK2

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Hi I'm sorry I'm just wanting to clarify something as I don't want to ask any stupid questions on Thursday, when they take your blood for the JAK2 mutation would that include the JAK2 exon 12? Im wondering if he did both, my statement just says JAK2 mutation but of course they may do every variant of JAK 2, plus when they check your blood to look for the mutation, would they look into it and check your EPO too or would that be another test? Sorry I just want to be clear with all my questions Thursday. X

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3 Replies

  • Posted

    Hi Julia

    I am not 100% sure but “reasonably” confident that these tests are not done at the same time. I believe that the JAK2 exon 12 test is requested when the JAK2V617F is negative and the Doctor still suspects Primary Polycythaemia. So I think you have good cause to ask for this test if your Doctor was surprised the JAK2V617F came back negative.

    Hope this helps

    Keith

  • Posted

    Hi Julia...

    My understanding is this; when they test for the Jak2 mutation they usually begin with the jak2 v617f (by far the most common at 96-97%) before they test for the Jak2 exon 12. If your EPO is within the normal range, along with a negative Jak2 v617f, they may not bother testing for the jak2 exon 12 mutation. Your EPO is a seperate test, but I can't imagine your hematologist would not have checked for that, but then again, who knows, my Internist didn't intitially check mine. Although an EPO is usually sub-normal in PV, from my research, it is not always the case, as some have an EPO within the normal range.

    Hope that helps... and I hope your appointment goes well on Thursday.   

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