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JAK2 Aquired V617F Mutation Detection
Short Description : JAK2 acquired-mutation analysis
Also known as : [Janus Kinase 2],[V617F]


DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Haematology


Specimen Collection

Note: All samples should be forwarded to LabPlus at room temperature within 24hours.


CPD4 mL CPD Blood (Preferred)
CPD2 mL CPD Bone Marrow (Preferred)
EDTA4 mL EDTA Blood
EDTA2 mL EDTA Bone Marrow
Turnaround Time: Within 2 weeks, 4 days
Diagnostic Use and Interpretation

This test detects a G to T mutation within the tyrosine kinase gene JAK2, which results in a valine to phenylalanine change at codon 617. This mutation is a common feature of myeloproliferative disorders and has been reported to be present in 85-90% of polycythemia vera (PV) and ~50% of essential thrombocythemia (ET) cases.

See also:

JAK2 Exon 12 Sequencing


Contact Information

To contact the Molecular Haematology team please call:

Auckland City Hospital   (09) 307 4949
Lablink   ext 22000
Prof. Peter Browett (Haematologist)     ext 9090-86281
Nikhil Ghallayan (Section Leader)   ext 22006
Molecular Haematology Lab   ext 22005

For more inforamtion about the Molecular Haematology service at LabPLUS:

Molecular Haematology information page




Polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis are the three main myeloproliferative disorders which presumably derive from a transformed haematopoietic stem cell. The basis of this transformation has been uncertain but may in part be due to a G to T mutation within the tyrosine kinase JAK2 gene which results in a valine to phenylalanine change at codon 617. This mutation is a common feature of myeloproliferative disorders and has been reported to be present in 85-90% of polycythemia vera (PV) and ~50% of essential thrombocythemia (ET) cases. An allele specific PCR method has been developed to identify the mutant allele.  

References:
Baxter et al Lancet 2005; 365: 1054-1061.
James C et al Nature 2005; 434:1144-1148.


Last updated at 11:48:27 18/03/2021