Where to get a Allele burden (quantitive) Jak2 (V617F)

[ainslie]

I am looking to find out what percentage my allele burden is , I am in Scotland and local hospital doesnt do quantitive allele burden test, only positive or negative not percentage. Has anyone in the UK had success in getting their percentage measured and if so could you tell me where. I can travel to anywhere in the UK or even Europe. I see that some on here in the UK appear to have it measured so it is being done I think. But because the English NHS is separate to Scottish one its likely to be tricky perhaps to get it done at a Englsih NHS hospital?. I would also be interested if anyone has had theirs measured successfully in a private clinic or private hospital in the UK as I would be more likely to have access to that. I am also trying to get a NGS (Next generation sequencing)test done, and wondered the same questions about that. I also asked for a BMB but was so far refused. All views welcome

[LittleLuna]

Hi

Have you tried contacting Dr Mark Drummond who is MPN Specialist who you can see privately via the Spire in Edinburgh. He works for NHS Glasgow mainly but I have seen him privately as not available in Fife via NHS.

He recommended NGS for me but not available on NHS but I believe it is done in Edinburgh lab.

My Jak2 bloods are tested at Edinburgh and I know mine is very low % so is available. I think its all down to costs and some Boards are not covering expensive tests.

What about putting a request for information via Patient Advice Liaison Service on why your Board will not offer tests?

[ainslie in reply to LittleLuna]

thank you, I saw MD last week and he said % Allele not available at all?, where did you get yours done in Edinburgh, ditto with NGS. I go to Western in Edinburgh. They say that they simply dont have facility to test % allele and BMB is not warranted as all my counts and symptoms are good. I have never heard of Patient Advice Liaison Service , who and where are they.

[Mazcd Partner MPNVoice in reply to ainslie]

hi Ainslie, PALS is the The Patient Advice and Liaison Service (PALS) offers confidential advice, support and information on health-related matters. They provide a point of contact for patients, their families and their carers. However, in Scotland they are called PASS Patient Advice & Support Service - We support anyone who uses the NHS to understand their rights and responsibilities as a patient in Scotland, raise concerns, give feedback or comments, or make a complaint about NHS treatment in Scotland. pass-scotland.org.uk/

Best wishes, Maz

[ainslie in reply to Mazcd]

thanks Maz, worth bearing in mind if all else fails.

[LittleLuna in reply to Mazcd]

Hi Maz

Each NHS Board uses different terms. Mine in Scotland is PALS.

Always a good source if got questions or issues which are not answered at medic level.

[LittleLuna in reply to ainslie]

hi Ainslie

When they mentioned my % maybe its not AB. I will check when I next see my haematologist.

NHS Lothian - you can submit queries, complaints, compliments eyc via [e-mail] which is available on their website

nhslothian.scot/yourrights/...

[shiftzz]

I've had two done. On the NHS. Leicestershire. Last result was just slightly above 2 %, I am waiting for the result of the next one, in about a month.

Consultant very pleased, but I still get fatigue and brain fog..

Meds aspirin and pega 135, weekly..

[Hopetohelp]

Awaiting for results of my allele burden test. Had to ask a few times until my haematologist on the NHS agreed. I understand Scotland can be different. They should be able to do a referral for a private hospital. Money seems to pay for anything these days. You could find a private Hospital and ask their advice as to how you go about getting the blood test done. Good luck

[ainslie in reply to Hopetohelp]

thanks for that, a private hospital might do it but I haven’t found one yet, Spire in Scotland don’t do it. Something I learned about recently from an expert is that all bone marrow biopsy’s and blood results are not the same. A expert told me the best place in UK. to get a BMB is NHS as they are more accurate allegedly. Not so sure about the blood tests but I know for other tests I have done for other ailments that blood test results from different labs can vary quite a lot including full blood counts. So getting a accurate test is also vital if trying to measure allele or NGS.

[Hopetohelp in reply to ainslie]

Good luck with that one. Hope you manage to get the results you need. My first jak2 diagnoses was made in a private spires hospital after having seen a private haematologist who ordered masses of blood tests. Went over my allowed diagnoses limit and cost me extra. Switched to nhs after that. Have heard too that different labs can vary

[STK52]

I got mine on the NHS England. But someone says that there are differences between blood and bone allele burden? I hope to speak to my consultant to understand better.

[ainslie in reply to STK52]

yes I wondered about the difference with allele on bloods compared to BMB, it seems there is also a bit of a difference with NGS done from bloods as opposed to BMB.

[Manouche]

according to ChatGPT :

According to a study published in Blood Journal, the median JAK2 V617F allele burden in peripheral blood (PB) and bone marrow (BM) was 52.7% and 51.4%, respectively, in all MPN patients ². Patients with post-PV MF had the highest JAK2 V617F allele burden (median, 92.6% in PB and 91.5% in BM), whereas patients with ET had the lowest JAK2 V617F allele burden (median, 23.9% in PB and 22.6% in BM) ².

A study published on PubMed suggests that PB could be used as an alternative to BM for JAK2 V617F measurement in patients with suspected MPNs ³.

I hope this helps answer your question!

Source : conversation avec Bing, 06/06/2023

(1) JAK2 V617F Mutation Allele Burden (MAB) and Its Correlation with .... ashpublications.org/blood/a....

(2) JAK2 p.V617F detection and allele burden measurement in peripheral .... ashpublications.org/blood/a....

(3) Comparability of JAK2 p.V617F allele burden in peripheral blood and .... pubmed.ncbi.nlm.nih.gov/370....

[ainslie in reply to Manouche]

mmm, dont know if you misred my post but it is "I am looking to find out what percentage my allele burden is" in UK

[Manouche in reply to ainslie]

ainslie, you wrote: « I wondered about the difference with allele on bloods compared to BMB ». ChatGPT gave you the answer

[ainslie in reply to Manouche]

thank you I missed that Manouche, although I am not a fan of Chat GPT for the reasons I previously posted. I appreciate you taking the time though

[Aldebaran25]

Hi, I am not sure if this will be any help for you, but I had my allele burden measured at Guy's Hospital in London . Not a routine test, I asked for it on starting Pegasys. Incidentally it is rather high (79%) which I was told is common for PV .

[ainslie in reply to Aldebaran25]

thank you for that info, Guys is NHS and unfortunately is separate to the Scottish NHS where I am and I saw Clair Harrison there once about 11 years ago., I wonder if they do private work, I will call them to check, wishing you good health

[Aldebaran25 in reply to ainslie]

thank you and good health to you too. Good luck on your allele burden quest!

[STK52 in reply to Aldebaran25]

mine was >85% . I’m a recently diagnosed PV patient

[Aldebaran25 in reply to STK52]

are you taking any drugs for the PV?

[ainslie in reply to Aldebaran25]

yes I am on Ruxolitinib and aspirin, before that I venisected for 7 years, I had serious itching and the Rux has sorted that thank goodness

[Rachelthepotter]

Hi Ainslie: useful info for me abt gaps in Scottish provision generally. There is a school of thought which says that since allele burden isn’t related to treatment decisions, it doesn’t need to be measured. If you took part in a research project, and I don’t know what might be available, you might find that the researchers would measure allele burden, and would also tell you the results.