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GTR Home > Tests > Polycythemia vera


Test order codeHelp: JAK2

Test name


Polycythemia vera (JAK2)

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Drug Response, Monitoring, Mutation Confirmation, Prognostic



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How to order


Requisition available on laboratory website
Order URL Help: http://www.lhsc.on.ca/lab/molegen/jak2_myl.htm

Specimen source

Bone marrow
Peripheral (whole) blood


Molecular Genetics
TTargeted variant analysis
  • Agena Mass Array

Summary of what is tested

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Clinical utility


Establish or confirm diagnosis

Clinical validity


It has been reported1 that a single point mutation *JAK2: c.1849G>T predicting an amino acid substitution (JAK2: p.Val617Phe) that has been identified in the JAK2 gene in 71 (97%) of a panel of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. This mutation, which is typically acquired, is present in a variable proportion of granulocytes, and alters a highly conserved valine present in the negative regulatory JH2 domain, and is predicted to dysregulate kinase activity.

  • Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. - PubMed ID: 15781101

Test services

  • Custom Prenatal Testing

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