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913 Diagnostics of polycythemia, thrombocythemia and myelofibrosis – analysis of a somatic mutation of JAK2 gene (pV617F, G1849T).

The test consists in analyzing a mutation p.V617F of gene of janus kinase JAK2, which is a mutation activating this protein. It is estimated that this mutation characterizes all clone proliferation of people who suffer from polycythemia (Osler's disease) and almost half of the cases of thrombocythemia and myelofibrosis.

Osler's disease is characterized with excessive volume of erythrocytes in blood (polyglobulia). Thrombocythemiais connected with an increased number of platelets (thrombocytes). Myelofibrosis is counted among myeloproliferation syndromes characterized with insufficiency of bone marrow (aplasia), its fibromatosis and – as a result – development of extramarrow blood production focuses. According to the World Health Organization (WHO), genotyping JAK2 (p.V617F) should be one of the basic criteria in diagnosing the above diseases.

Test material: full blood (EDTA)

Transfer method: blood: 4-10°C (a set for blood tests); exsanguination ONLY if there are clinical symptoms

Testing method: Direct sequencing of respective gene’s fragments

Delivery date: up to 10 business days