JAK2 46/1 haplotype

[TGRM]

I have the JAK2 46/1 haplotype and some abnormalities primarily a very high serum cobalamin count, should I be tested for JAK2 and what exactly is tested in the blood please?

[Mazcd Partner MPNVoice]

Hi TGRM, you need to discuss further tests with your doctor. Maz

[hunter5582]

Presence of the JAK2 haplotype just means a higher probability of acquiring the somatic JAK2 mutation at some point in your life. It does not mean you have the mutation yet nor that you ever will. If your CBCs are normal, then it is likely the acquired mutation is not present. There is a simple blood test for the presence of the JAK2 mutation that your doc can order. Best to consult with your doc on whether this should be done as a rule out.