Specimen Collection

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

4 mL CPD Blood (Preferred)

2 mL CPD Bone Marrow (Preferred)

4 mL EDTA Blood

2 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.

References:
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
Dr. Imogen Caldwell (Haematologist)	ext 22006
Nikhil Ghallayan (Section Leader)	ext 22005
Molecular Haematology Office	ext 22005

For more information about the Molecular Haematology service at LabPLUS:

Molecular Haematology information page

Last updated at 15:36:59 07/03/2024