JAK2 Test

[Mall11]

hi everyone

First time posting, my 23 year old daughter has been waiting for her results she took the test November 30. We called her dr today and found out they are sending her a letter in the mail the only thing they would tell us over the phone is JAK2 was negative.

Anyone know what this would mean or what would happen next?

[EPguy]

What was the reason for getting the test? Are her blood counts out of range?

There are many reasons that can happen that don't involve MPN condition, she could have this too. Negative Jak2 is a start in that direction.

Jak2 (v617F) is one mutation they look for. But there are other mutations that are associated with MPN conditions. So if MPN is suspected and Jak2 is negative, they should be checking for the others.

There are lots of letters in these descriptions. They likely looked for Jak2 Exon 14.

For your question what's next, they may look further if they have not already. For PV others are Jak2 Exon 12. For ET it includes CALR, MPL, or none at all. There are lots more that can be checked too. Her Dr should be explaining all this to you in detail.

[Mall11 in reply to EPguy]

they did that test because her blood platelets are high. They gave no other direction yet except they will be mailing a letter

[EPguy in reply to Mall11]

High platelets and others ok would point to ET, if it is an MPN at all. So they will/should be checking CALR and MPL. Hoping the letter has more info.

[Mazcd Partner MPNVoice]

hello Mall11, it is very difficult when you are waiting for the results of tests and a diagnosis, hopefully the letter will arrive soon and you and your daughter will have an answer and if she is diagnosed with a MPN then please do look at the information on our website mpnvoice.org.uk, there is lots on there that will help, including a series of blogs written by Alice, who herself was diagnosed with ET when she was 21 years old mpnvoice.org.uk/about-us/yo...

Keep us posted and best wishes to you and your daughter. Maz

[hunter5582]

A complete genetic assessment for ET would include JAK2, CALR, and MPL. If the JAK2 test was the only one done, then subsequent testing is required. If all three tests are negative, then subsequent assessment would likely include a bone marrow biopsy. This would help to determine whether the thrombocytosis is secondary to another condition or whether your daughter has a Triple Negative Essential Thrombocythemia.

If your daughter has not already consulted with a MPN Specialist, suggest it is time to do so. MPNs are rare disorders and optimal assessment and care requires input from doctors who specialize in these rare conditions. This is particularly important with patients as young as your daughter since it is less common for ET to manifest so young. Here is a lst.

mpnforum.com/list-hem./

All the best to you and your daughter,