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Janus kinase 2 Mutation, Quantitative PCR

Item Value
Approval req'd? No
Available Stat? No
Test code MOLT
Test group JAK2
Performed by ARUP
Sendout? Yes
Method PCR & Sequencing
Collection Instructions Record date and time of collection on the tube label
Container type Lavender top, Dark green top
Amount to Collect 5 mL blood
Sample type Whole blood
Preferred volume 5 mL
Min. Volume 4 mL
Processing notes Do not centrifuge or aliquot. Ship whole blood to China Basin at ambient temperature.
Units pg/mL
Normal range Negative
Synonyms V617F; Myeloproliferative disorders; MPD; JAK2
Stability Room temperature or refrigerated 3 days
Additional information Clinical Significance:
A somatic mutation in a highly conserved residue of the Janus kinase (JAK2) on chromosome 9 was detected in 80% of patients with polycythemia vera(PV), and 30-50% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). This point mutation in exon 14 of JAK2 alters codon 617 from a valine to a phenylalanine residue on JH2 domain of JAK2 kinase, thus disrupting auto-inhibitory property of this pseudokinase domain and leading to constitutive activation of the tyrosine kinase. This enhanced JAK2 kinase activity is thought to confer erythropoietin hypersensitivity and erythropoietin independent survival to the myeloid stem cells. Although JAK2 V617F mutation has been detected in variable percentage of patients with other type of myeloid malignancies, normal individuals tested so far are exclusively negative for the mutation.

A negative result does not rule out the presence of V617F at a level below the sensitivity of this assay and does not exclude the presence of other mutations in the JAK2 gene.

The Quantitative measurement of V617F may be useful for assessing the correlation of tumor load/phenotype; monitoring/predicting the progression or responses of the disease when MPD patients are under therapy.
CPT coding 83891-90, 83896-90 83898-90, 83904-90, 83912-90
Last Updated 4/15/2014 11:00:47 AM
Entry Number 1499
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