Diagnosis of polycythemia vera involves a combination of clinical evaluation and laboratory tests:
- Complete Blood Count (CBC): To assess elevated red blood cell mass, hematocrit, and hemoglobin levels.
- Bone Marrow Biopsy and Aspiration: To examine the cellularity and presence of abnormal cell proliferation.
- JAK2 Mutation Test: A genetic test to identify the presence of the JAK2 V617F mutation, which is found in most cases of PV.
- Erythropoietin (EPO) Levels: Measuring EPO levels, which are usually low in PV patients.
- Blood Smear: To look for abnormal blood cells under a microscope.
- Oxygen Saturation Test: To rule out secondary causes of polycythemia related to hypoxia.