How 'bout a dash of mutation with that genetic cocktail?

If you want to know all the ins and outs of genetic mutations and myeloproliferative neoplasms (of which essential thrombocytosis is one), get a Ph.D. in biology. But if your doctor suspects you have ET or some other MPN, s/he will probably look for a Janus kinase 2 (aka JAK2) mutation that causes your bone marrow to produce too many platelets, and that test is useful to understand.

The test is simple. For you, anyway (no idea what the lab tech has to do to process the sample). I went to the lab in September 2015, had a chitty-chat with the lab tech, who turned out to be my boss's mother (so good thing I didn't start griping about pay issues ...). She took a blood sample like she would for any other tests. Said to expect results in about a week or two. If you have a positive result, it can help confirm your diagnosis. 

Mine was negative, but I understand from my hematologist that this test will run a false negative about 25 percent of the time, and it's present in only 50 percent of ET patients. So not really a big shockeroo. But the test is worth doing because if it comes back positive, it may mean you won't have to have a bone marrow biopsy/aspiration to close the deal  on the diagnosis.

Meantime, what's in your genetic cocktail that helped your hematologist confirm your disease? I hear a new mutation, Calreticulin (CALR), is also associated with ET. And work is being done to look at an inherited form of ET. Anybody have info about this?

Be well!

Two 2015 studies about JAK-2 and CALR forms of ET

Read more about CALR and JAK-2 research
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