Alle burden ratio

[john0084]

I'm due for a review with a consultant in August and won't to understand some technical matters regarding my pv, I'm jak2 positive but I don't know my alle burden levels, I understand a higher burden means more issues with strokes etc. My question really is is there a special blood test or is this info already on the doctors computer?

[EPguy]

The tests for whether you are Jak2+ (qualitative) and how much Jak2 allele you have (quantitative) can both be done from the blood draw, but the tests are different. Modern practice usually includes the VAF, or variant allele frequency. It's quite possible your Dr or the lab has this info for you, but Dr didn't give you the info. You should ask.

[Uzza]

Hi John,

There is a separate test that is required. They are often resistant at doing the test for some reason.

Cheers,

Uz

[dabs121]

As mentioned above, it is measured from a blood test, but in the UK it seems a bit hit and miss as to whether or not the Dr's / Hospital you are dealing with will do this. I asked for it to be done and was told my Health Board (Scottish Borders) didn't have the funding for it!

I asked this question in this forum and got some interesting replies which you might find helpful, here is the link

healthunlocked.com/mpnvoice...

[john0084]

Thanks uzza,epguy and dabs for your help, I will press my consultant for a test at my next appointment. I think it's becoming more relevant with the newer interiors and jakavi that may slow or even stop disease progression.

[hunter5582]

As others have indicated, there are qualitative and quantitative JAK2 tests. The results may already be in your chart. Or not. Different docs have different attitudes about the value of knowing the allele burden. Some do not know what to do with the results, so they do not bother with the testing . It is important to ensure that you consult with MPN Specialist rather than a regular hematologist. They are much more likely to be current with the current state of the art with MPNs.

Here is some information you may find helpful.

ashpublications.org/blood/a...

ashpublications.org/blood/a...

List of MPN Specialists

mpnforum.com/list-hem./

[Aldebaran25]

Often under the NHS measuring the allele burden is not routine, as it is an expensive test and not yet fully accepted as a clinical predictive tool. I had mine measured once I asked for it, and now I am asking for a whole panel (other disease relevant genes too) to be done at my next visit, which I am not sure I will get. Part of the limitations of being under a publicly funded system. I suggest you ask at your next appointment.

[MAP44]

Hi John,

I am in Canada and they do not offer those tests here because they do not follow that protocol. Feeling great so I will assume everything is great. 🍻