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JAK2 Exon12 Mutation Analysis by Next Generation Sequencing

Test Code



Myeloproliferative neoplasms, MDS/MPN overlap disorders

Reflex testing
May be of interest to further exclude involvement by Polycythemia Vera if JAK2 V617F mutation is not detected

Next Generation Sequencing to detect mutations in JAK2 gene; TruSight Myeloid (TSM) assay (Illumina, 2016)

Turnaround Time

10 days

Specimen Requirements

5.0 mL (min. 1.0 mL) whole blood EDTA preferred, heparin whole blood accepted
3.0 mL (min. 1.0 mL) bone marrow aspirate EDTA preferred, heparin accepted

Specimen Stability
EDTA whole blood or bone marrow stable at room temperature (18-25°C)
Storage & Handling

Whole blood and bone marrow ship in a Styrofoam container with a cool pack. (Do not allow cool/refrigerated pack to directly contact samples)

Causes for Rejection

Insufficient DNA content; Insufficient specimen volume; Specimen at incorrect temperature; Incorrect anticoagulant

  1. Arber et al. (2016)  The 2016 revision to the World Health Organization Classification of Myeloid Neoplasms and Acute Leukemia.  Blood. 2016 May 19;127(20):2391-405
  2. Vainchenker W, Kralovics R. (2017) Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms.  Blood. 2017 Feb 9;129(6):667-679

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