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JAK2 Exon 12 Sequencing

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)
EDTA2 mL EDTA Bone Marrow
Turnaround Time: Within 4 weeks
Diagnostic Use and Interpretation

This test uses sequencing to detect acquired mutations in exon 12 of the JAK2 gene. While 95% of Polycythemia Vera patients and 50% of Essential Thrombocythemia and Idiopathic Myelofibrosis patients are known to carry acquired V617F mutations in the JAK2 gene, other acquired mutations within exon 12 of the JAK2 gene have also been linked to these diseases. While the prevalence of these mutations within these disease populations is not known they have been demostrated to cause myeloproliferative phenotypes in animal models. JAK2 exon 12 sequencing can be requested to rule out JAK2 mutations in V617F negative patients.

L M Scott et al., The New England Journal of Medicine, 2007, 356(5), p459

See also:

JAK2 V617F Mutation Analysis

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

Information on the Sequencing of JAK2 Exon 12:

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