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TEST MENU

JAK2 V617F and Exons 12, 13 Mutation Analysis

Method	Units	Reference Range
PCR

Specimen Requirements

Preferred
No	Type	Volume	Temperature/Stability
1	Whole blood EDTA (purple top)	5 mL	Refrigerated - 72 hours Record draw time and date on tube. Transport immediately to maintain sample stability.

General Information

Clinical Utility	The JAK2 tyrosine kinase (V617F) was detected in most patients (greater than 80 percent) with polycythemia vera (PV), 30 to 50 percent of patients with either essential thrombocythemia (ET) or myelofibrosis. The mutation permits a new molecular classification of MPDs. This assays detects the JAK2 V617F and exon 12 mutations, which helps diagnose or confirm the diagnosis of MPDs. JAK2 and exon 12 mutations define a distinctive V617F negative myeloproliferative syndrome (mostly PV).
Set Up Schedule
Turnaround Time
CPT Codes	83891, 83902, 83898, 83904x2, 83912
FDA Status	ASR
Notes	Record the draw time and date on the tube. Information regarding the draw time and date is required to ensure that the stability of the sample is maintained.
References	Ma W., et al. Hemizygous/homozygous and heterozygous JAK2 mutations detected in plasma or patients with myeloproliferative diseases: correlation with clinical behavior. 2006. Br J Haematol. 134(3): 341-1. Ma W., et al. Higher sensitivity and detection of homozygous/hemizygous state of JAK2 mutation using plasma. 2007. Submitted.

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