LOINC long common name : JAK2 gene.p.Val617Phe mutant/Normal in Blood or Tissue by Molecular genetics method;
LOINC short name : JAK2 p.V617F mut/Nor Bld/T;
LOINC description : The JAK2 gene is located on chromosome 9 and the V617F point mutation causes valine
to phenylalanine substitution at position 617. JAK2 is a cytoplasmic protein, with
the V617F mutation resulting in constitutive JAK2 activity and enhanced JAK2-signal
transducers and activators of transcription signaling. The V617F point mutation causes
the activation of these pathways, leading to uncontrolled cell proliferation, resulting
in myeloproliferative disorders. This mutation is seen in most patients with polycythemia
vera and about half of the patients with essential thromobcytopenia and idiopathic
myelofibrosis. Mutation has also been found in some patients with Philadelphia chromosome
negative Chronic Myelogenous Leukemia(CML), Chronic Myelomonocytic Leukemia(CMML),
chronic neutrophilic leukemia, megakaryocytic leukemia, and some patients with myelodysplastic
syndrome(MDS). Information from the American Society of Hematology (www.hematology.org;
accessed 2007 03 02.) and ARUP Laboratories (2007 10 24).;
Has component