A diagnosis of myeloproliferative neoplasms can be challenging due to the lack of signs and symptoms, which can also often be mistaken for another disease.

Myeloproliferative neoplasms can be found during physical exams, as well as through a procedure, complete blood count with differential, where blood is drawn and checked for the number of red blood cells, white blood cells and platelets, as well as the amount of hemoglobin in the red blood cells and the portion red blood cells making up the blood sample. Other procedures include a peripheral blood smear, blood chemistry studies, bone marrow aspiration and biopsy, cytogenetic analysis and gene mutation tests.