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Allele Burden With JAK2

A myMPNteam Member asked a question 💭
Philadelphia Area, PA

I see some of you talking about your allele burden though my hematologist has never mentioned that to me. How can I find that out?Is there a separate test for that? I did test positive for JAK 2 through blood work and had a bone marrow biopsy. Would my allele burden appear in one of those?

March 6, 2024
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A myMPNteam Member

In my experience, the various mutations and corresponding VAF is from something called a Rapid Heme Panel. I had this test as part of the several investigative tests that were performed before I was formally diagnosed with PMF. I believe it may have used samples from my bone marrow biopsy. It is not a test that is done as part of my normal blood testing every 6 months.

March 10, 2024 (edited)
A myMPNteam Member

Tatiana,
Thank you, I will ask my hematologist that question when I see her again,
Eileen

March 7, 2024
A myMPNteam Member

Thanks so much, Tatiana, for your quick response. I will try to check my test results and ask my Dr about it if I can’t figure it out.

March 6, 2024
A myMPNteam Member

Dear Eileen,

The Rfx 12-15 refers to the exons targeted by the test to see if you have pathogenic genetic mutations.
You can read more here:
https://www.labcorp.com/tests/489540/i-jak2-sup...

That is not the variant allele frequency.
You are well within your patient rights to ask your treating physician about your allele burden. And if you did this test independently and not via your physician, you could ask the lab, if they were the ones who sent you the report directly.

Best wishes,
Tatiana

489540: JAK2V617F Mutation Analysis, Quantitative, With Reflex to JAK2 Exon 12-15 Mutation Analysis by NGS | Labcorp
489540: JAK2V617F Mutation Analysis, Quantitative, With Reflex to JAK2 Exon 12-15 Mutation Analysis by NGS | Labcorp
March 7, 2024
A myMPNteam Member

Hi Tatiana, I looked at my report and could not find VAF. What I did find was JAK2 V617F Qual, Rfx 12-15. Could that indicate allele burden? Thank you, Eileen

March 7, 2024

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