JAK2 mutation test
Quick answer: This test looks for changes (mutations) in the JAK2 gene in blood cells. It helps diagnose bone marrow conditions called myeloproliferative neoplasms, such as polycythaemia vera, when blood counts are very high.
- SampleBlood
- TakesAbout 5 minutes
- Before the testNo special preparation is usually needed.
How the test is done
- 1Blood is drawn from a vein into an EDTA tube
- 2The lab extracts DNA from your blood cells
- 3A molecular test looks for the JAK2 V617F change and sometimes others
- 4The result is reported as detected or not detected
What your results can mean
Reading your report
A positive result supports a diagnosis but is read with blood counts and other tests; discuss it with your doctor.
If the result is outside the usual range
A detected result can point to a myeloproliferative neoplasm, such as polycythaemia vera, essential thrombocythaemia or myelofibrosis. A negative result does not rule these out.
Who usually has this test
People with persistently high haemoglobin, platelets or white cells, or with blood clots in unusual places.
Risks and aftercare
Bruising is possible; one test is usually enough, as the result does not change from day to day.
Names and options
Also called: JAK2 V617F, JAK2 test
Listed by the hospital as
- JAK-2 MUTATION
Questions about this test
Is a JAK2 mutation inherited?
No, it is usually acquired during life in blood-forming cells, not passed on from parents. It is not passed to children.
Does a JAK2 mutation mean cancer?
It is linked to slow-growing blood conditions called myeloproliferative neoplasms. Many people live with these for years with treatment.
Why test JAK2 after an unusual clot?
Some clots in unusual places, such as the veins of the liver or gut, can be the first sign of these conditions. Testing JAK2 helps doctors look for this cause.
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This page explains each test in general terms so you know what to expect. It is not medical advice: your doctor decides which tests you need and what your results mean. Reference ranges differ between laboratories. Updated 4 November 2026.