Test Name
JAK2 EXON 12 Mutation Analysis
Test Code
M JAK2 EX12
Associations
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
CPT Codes
81403
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 Rejections
Insufficient DNA content; Insufficient specimen volume; Specimen at incorrect temperature; Incorrect anticoagulant
References
- 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
- Vainchenker W, Kralovics R. (2017) Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms. Blood. 2017 Feb 9;129(6):667-679
