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Division of Human Genetics

Molecular Genetics Laboratory CLIA#: 36D0965791 Phone: (513) 636-4474

Fax: Email:

(513) 636-4373 moleculargenetics@cchmc.org

Additional information and test requisitions are available at: www.cincinnatichildrens.org/molecular-genetics

Shipping Instructions

Please enclose an oncology test requisition with sample. All information must be completed before sample can be processed.

Place samples in Styrofoam mailer and ship at room temperature by overnight Federal Express to arrive Monday through Friday

Ship to: Cytogenetics and Molecular Genetics Laboratories 3333 Burnet Avenue NRB 1042 Cincinnati, OH 45229

JAK2 V617F Quantitative Assay (JAK2)

The JAK2 is a tyrosine kinase that is important in signal transduction in hematopoietic cells.

A specic mutation in the JAK2 gene, known as V617F, has been found to be present in a large percentage of cells from patients with chronic myeloproliferative disorders. V617F is an activating mutation.

This mutation can be helpful for clinicians in distinguishing between reactive cytosis and myeloproliferative disorders. Additionally, patients with this specic mutation might benet from targeted therapies designed to inhibit the tyrosine kinase activity of JAK2.


The main indication for JAK2 testing at this time is diagnosis. The JAK2 V617F mutation can help a clinician distinguish overlapping clinical phenotypes and make a diagnosis of a myeloproliferative disorder such as polycythemia vera, essential thrombocythemia, and/ or myeloid metaplasia with myelobrosis. Additionally, JAK2 V617F testing might aid in providing information that can be used to aid in treatment related decisions or in prognostication. These indications for testing are less well established than testing related to diagnosis.

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