To make a diagnosis of essential thrombocythemia, patients will require blood tests including a full blood count and tests for the mutations (gene alterations) found with MPN. The gene alteration usually associated are Jak2 V617F, Calreticulin (CALR), and MPL.
Patients may need a bone marrow aspiration and trephine biopsy, as well as additional tests to exclude other causes of elevated blood counts.
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