Erythropoietin (EPO)+Jak 2 Exon 12-15

The Erythropoietin (EPO)+Jak 2 Exon 12-15 test is a comprehensive diagnostic evaluation used to investigate the underlying cause of erythrocytosis (increased red blood cell count) and identify myeloproliferative neoplasms (MPNs), particularly polycythemia vera (PV).

Erythropoietin (EPO) is a hormone produced mainly by the kidneys that stimulates the bone marrow to produce red blood cells. Measuring its amount in the blood helps determine whether red cell overproduction is due to a secondary cause (such as low oxygen, kidney disease, or tumors that secrete EPO) or a primary bone marrow disorder.

The JAK2 Exon 12 to 15 mutation analysis detects changes in the Janus Kinase 2 (JAK2) gene, which is important for blood cell production. Mutations in this gene, most commonly V617F (Exon 14) or Exon 12 variants, cause constant activation of the JAK-STAT pathway, leading to uncontrolled red blood cell production even without erythropoietin stimulation.

Doctors may recommend this combined test for individuals showing persistent high hemoglobin, hematocrit, or red cell mass, or when polycythemia vera is clinically suspected. It aids in confirming the diagnosis, differentiating from secondary causes, and guiding targeted management strategies.

For this test, it is essential to provide clinical history, other blood test reports, and doctor’s prescription at the time of sample collection. A Tata 1mg Test Requisition Form (TRF) should also be duly filled and submitted with the sample.

Lab test results may vary across different laboratories. Abnormal test results require an expert interpretation. Therefore, never try to self-medicate at home based solely on these results, and always consult a doctor for proper understanding of the test results.