The following is an UPDATE to my seeking answers about MPN Patients being enabled to obtain and order "Allele Burden Frequency (ABF)" Testing for all MPN Driver mutations.
Allan, (one of our MATES members), started me off to discover these responses, and hopefully soon, we here in Australia will also be able to obtain these results, which can often reveal some prognostic values concerning having an MPN.
To date, in Australia, one can obtain a Test for the JAK2 'Driver' mutation, which is available presently at the Royal Prince Alfred, (where I believe the Testing can be - Bulk-Billed or a $75.00 Rebate is available via Medicare.
Further, I have been reliably informed through the Peter MAC CAncer Foundation, that most Australian states at least have one hospital w/ a molecular cytogenics department, who should also be equipped to provide such technical requests.
However, if an MPN Patient in Australia has one of the other 'Driver' mutations, I.e. CALR or MPL
The ONLY way at present to gain the equivalent information for ABF is by requesting a 'Next Generation Sequence (NGS)' gene panel, which is somewhat more expensive at circa $500.00
It is this writer's understanding that the writing below alludes to seeking greater Equity for all MPN patients, irrespective of which 'Driver' mutation they may have.
As I may have mentioned previously, knowing what a patient's ABF is can be a valuable prognostic tool, and in many cases might also provide cause for the removal of some anxiety, where MPN patients are generally concerned. There are many instances where people who might have been diagnosed w/ either ET or PV become most anxious and wondering what longevity they might now have. However, if there medical teams can show them that their particular MPN is mainly indolent then perhaps they might be able to rest a tad more easily, in my view...
Please everyone, do encourage your medical teams here in Australia, to add to the comments section, when it soon becomes available for the 'Expansion of Genetic Testing for MPNs'
At diagnosis I had the driver mutation tests and the NGS panel tests.
My haematologist suggested I have Allele Burden test but that this was not available on the NHS and I would need to approach a private clinic for this test. Obviously at my own cost.
I posted here to seek advice from others and was advised that the ABF test was irrelevant as I had CALR and not JAK2 and the ABF checks JAK allele burden. Needless to say as a frugal Yorkshireman I opted not to have the test.
Now I am wondering whether that decision was wrong and will discuss it again with my haematologist at the next phone consultation.
Yes, quite often this stuff can easily become confused in the jargon of unfamiliar terminologies etc...
As I have tried to outline in my Post, here in Australia, these tests are rarely performed simply because previously they were not covered by our equivalent of your NHS, (Medicare), and as such, rarely heard of indeed.
Nevertheless, and just for your further information, I am also Post ET / MF, w/ CALR+ Type2, w/ ASXL1+... So we do have a few things in common my northern friend...
I learned through my enquiries here, and was assured, that my CALR & my ASXL1 (Allele Burden Frequency - ABF Tests), were recorded when I had my I had my NGS undertaken in 2018.
Today, I contacted the Lab, (& clinical pathologist), and they simply provided me w/ the ABFs.
Hence, I am assuming, that you should be able to request the same from the Lab, where your NGS tests were conducted too... (?)
NB** Remember, that the JAK2 ABFs can be arranged w/out an NGS being required, however, if one's 'Driver Mutations' are either CALR or MPL, then the NGS is presently the only way to obtain those percentages etc.
Hopefully, into the 'not-to-distant-future' our NGS tests will cost no more than the JAK2 tests do, (hopefully...
NB* My further understanding is that higher CALR 'ABFs' are reasonably commonplace, as the mutation does not interact as strongly as a JAK2 mutation, which are usually a tad lower than the CALR values...
These Tests "Allele Burden Frequency" (ABF), measure the amount of the 'Driver Mutation' that might be present in the blood of anyone who has one of the MPNs, (ET, PV or MF) etc.
The 'Driver Mutations' are: JAK2, CALR & MPL
However, some people are 'Triple Negative' because they are unable to detect any of those Three (3) mutations, in some people...
In other parts of the world, (other than Australia), those ABF tests are more common, and I/we are hoping that we will now see them conducted more regularly here 'Down Under' in Oz too...
Hi Steven, thank you for explaining this so clearly. It has been hidden for a long time but has now filtered down to us via the many excellent Seminars we could watch this year. I have a Jak2 allele burden test arranged for Tuesday in London. I have had very good info on this site from Manouch and Mary. I have PV since 2005 so I am very keen to find out the results. When I get these I will follow up the panel tests you mention.
Just remember that the NGS, is really mainly to learn if other High Molecular Risk (HMR) mutations are present, and that the JAK2 ABF test can be conducted independently, and for a lot less, (as I understand it...)
Maria, in your case, (& as you have already had an NGS Panel done), finding your ABF should not be so difficult, and indeed, should be part of the 'Record' of your NGS, (as I understand it...)
Knowing what are ABFs are, might be useful, as while it might suggest a 'Progression' if the ABFs were to rise, it might also suggest an ongoing Chronic condition prevails, or indeed an ABF level that has diminished... (?)
However, it is a question for each of us I guess...
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