Hey guys! I just went to my hematologist and he said that only 50 to 60 percent of people will test positive on Jak2 mutation for ET, then here in our country the other 2 mutations are expensive each test is 300USD and he suggest that I should prioritize my bone marrow biopsy. Also should i choose being sedated or just local anesthesia?
Thank you so much! More power and Godbless!
Many hematologists recommend a BMB at the initiation of diagnosis and treatment for MPNs. Not all do and sometimes diagnosis can be done with blood tests only. The mutation tests can all be done as part of the BMB. You definitely want to know which mutation you have as it is relevant to your diagnosis and treatment.
It s pretty common to first check for JAK2v617f, the most common mutation. If that is negative, then they check for the other driver mutations. It is also a best practice to check for the non-driver mutations since these additional mutations play a role in prognosis and treatment. Unfortunately, this is not done by all docs.
Regarding local or general anesthesia it really depends on your pain tolerance and how anxious you feel about the procedure. Not really a right or wrong answer, just what is right for you.
All the best moving forward.
Thank you so much. I am a really anxious person so i think i should go with general anesthesia.
I’m confused I had 1 blood test that was tested fir any mutation.
There are panels that check for all of the driver mutations. Or they can be checked for one at a time. There are both qualitative (yes/no) and quantitative tests (%). There are panels that also look for non-driver mutations. The more that is looked for, the more expensive the testing. Some systems/some docs try to do things the cheapest way possible vs being as thorough as possible. To be fair, it used to be thought that if you were JAK2 positive that was all the information that was needed. The role of non-driver mutations was not well known nor did docs know that it is possible to have more than one driver mutation (which is very rare). Fortunately the science of diagnostics is evolving. Clinical practices just need to catch up to the science.
Hi,I just had a bone marrow biopsy yesterday. I tend to be anxious as well.
I got 5mg of diazepam to stay calm and local
anesthesia. I requested lots of it. The nurse practitioner was very experienced. I had very little discomfort during and after the procedure. I hope this helps.
Also, bone marrow biopsy samples are valuable and I would try to get as much testing done as possible, including next generation sequencing (NGS). It will provide important information as Hunter stated, and I believe it is pretty much standard of care here in the U.S.
Wishing you good health!
Mutations 
Gene mutations positive or not? 
Jak2 mutation!
