Imperial Collage Healthcare

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Janus kinase 2 (JAK2)

Test Background
The JAK2 protein plays an important role in normal haematopoietic growth factor signaling. A somatic point mutation (V617F) was discovered to cause deregulation of intracellular signaling, resulting in continuous haematopoietic growth factor stimulation. If a JAK2 V617F mutation is detected (and the overall clinical indications fit) then it is likely that the patient has a myeloproliferative disorder and further tests are advised. If a JAK2 V617F mutation is not detected but a JAK2 exon 12 or exon 13 mutation is detected, then it is more likely that the patient has PV, as long as this is considered within the larger clinical picture.

Clinical Indications
Patients with MPDs, such as polycythaemia vera (PV), essential thrombocythaemia and idiopathic myelofibrosis.

Sample Required
Blood or bone marrow in EDTA (lavender top)

Sample Volume
6 mL blood 3-5 mL bone marrow

Turnaround Time
10 working days

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