- kit serves as an aid to diagnosis in patients presenting with clinical suspicion of myeloproliferative neoplasms, including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) according to WHO guidelines and without restrictions to specific age, gender, or ethnic populations
- kit requires manual preparation of reagents and samples, which are then analysed with the use of real-time PCR cycler instrument
- intended for laboratory professional use by trained healthcare professionals
Clinical implications
The JAK2 enzyme is involved in the signaling pathway leading to blood cell production. Substitution of the amino acid valine for phenylalanine at position 617 leads to uncontrolled cell proliferation and survival of hematopoietic precursors. Somatic mutation occurs in most patients with diseases such as essential thrombocythemia and chronic idiopathic myelofibrosis. A higher risk of complications (thrombosis, abortion, etc.) is generally expected in carriers of this mutation.