HLX JAK2 V617F Quantitative HLX JAK-2 Mutation CASE
Synonyms |
JAK2 V617F Quantitative |
Allscripts (AEHR) Order Name |
Molecular JAK2 Assay |
Sunrise Clinical Manager (SCM) Order Name |
JAK2 Mutation |
Clinical Info |
Myeloproliferative disorders (MPD) are believed to originate through transformation in hematopoietic stem cells (1). Polycythemia vera (PV), essential thrombocythemia (ET), and idiopathic myelofibrosis (IMF) are three main Ph-negative MPDs; these share many characteristics such as marrow hyper-cellularity, risk for thrombosis and hemorrhage and transformation to leukemia.Recent studies on activated tyrosine kinases and signaling through Janus kinases have led to the identification of an acquired point mutation, G1849T in exon 14, in Janus kinase-2 (JAK2) gene in several patients with MPD. In fact, this mutation, V617F, in which phenylalanine is substituted for valine at position 617 has been reported in 95% of patients with PV, and in about 50 to 60% of patients with ET and IMF. This mutation is also reported in a few patients with other MPD conditions and Acute nonlymphocytic leukemia (ANLL), but not reported in patients with lymphoid malignancies, or Chronic myelogenous leukemia (CML). |
Specimen Type |
Blood, Bone Marrow |
Container |
Lavender Top Tube |
Collection Instructions |
Peripheral Blood or Bone marrow |
Transport Instructions |
4°C or room temperature |
Specimen Stability |
Specimens are stable for a week refrigerated. |
Methodology |
Real-Time Polymerase Chain Reaction (PCR) |
Days Performed |
Monday through Friday |
Performing Laboratory |
Northwell Health Laboratories |
CPT |
81270 |
PDM |
5160105 |
Result InterpretationAn interpretative report will be provided. |
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Forms |
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