JAK2
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最主要的JAK2基因测试被称为JAK2 V617F。它可以检测出JAK2基因上一个特定位点的突变，称为点突变。这造成编码蛋白质的基因发生改变，导致第617个氨基酸上正常的缬氨酸(V)被苯丙氨酸(F)所取代。这一变化激活了JAK2基因，并促使这些细胞更加失控地生长。有多达90%的真性红细胞增多症的患者，和50％原发性血小板增多症或原发性骨髓纤维化的患者，其JAK2 V617F突变的检测结果是阳性的。
其他的JAK2基因突变也与某些类型的骨髓增生性疾病有关。这些测试检测基因某特定部位（外显子）的变化。这些突变影响JAK2基因的12号外显子和13号外显子。
2008年，世界卫生组织（WHO）更新了真性红细胞增多症和原发性血小板增多症的诊断标准，添加“有JAK2 V617F或具有类似功能的突变的存在，如JAK2基因的12号外显子的突变”作为主要的标准。此更新举措不是医疗界的每一个人都接受，但JAK2基因测试却已开始被用于帮助诊断骨髓增生性疾病。
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参考文献
注意：本文是在此处引用的参考文献和医学检验项目在线介绍编辑审核委员会全体成员的经验和研究结果的基础上总结而成。本文由编辑委员会定期审核、更新。任何新引用的文献都会添加到列表中，并且会与原有的参考文献区分开。
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Beals, J. (2009 March 16) JAK2 Haplotypes Influence Susceptibility to Myeloproliferative Neoplasms. Medscape Medical News [On-line information]. Available online at http://www.medscape.com/viewarticle/589655 through http://www.medscape.com. Accessed July 2009.
McMahon, C. et. al. (2007 May 25). JAK2 V617F Mutation in Patients With Catastrophic Intra-abdominal Thromboses. Medscape from American Journal of Clinical Pathology [On-line information]. Available online at http://www.medscape.com/viewarticle/556664 through http://www.medscape.com. Accessed July 2009.
Tan, A. et. al. (2007 July 23). A Simple, Rapid, and Sensitive Method for the Detection of the JAK2 V617F Mutation. Medscape from American Journal of Clinical Pathology [On-line information]. Available online at http://www.medscape.com/viewarticle/558906 through http://www.medscape.com. Accessed July 2009.
Vannucchi, A. et. al. (2009 March 23). Treatment Options for Essential Thrombocythemia and Polycythemia Vera. Medscape from Expert Review of Hematology [On-line information]. Available online at http://www.medscape.com/viewarticle/589735 through http://www.medscape.com. Accessed July 2009.
(2007 March). JAK2 c.1849G>T (V617F) Mutation Quantification by Real-Time PCR. ARUP Technical Bulletin [On-line information]. PDF available for download at http://www.aruplab.com/Testing-Information/resources/TechnicalBulletins/JAK2%20c.1849G-T%20(V617F)%20Mutation%20Quantification%20by%20Real-Time%20PCR%20-%20March%202007.pdf#xml=http://websearch-vrt.aruplab.net/isysquery/8edd8faa-25d9-47cc-b7d7-60193abd52e4/3/hilite/ through http://www.aruplab.com. Accessed July 2009.
(2007 March). JAK2 (V617F) Mutation by PCR. ARUP Technical Bulletin [On-line information]. PDF available for download at http://www.aruplab.com/Testing-Information/resources/TechnicalBulletins/JAK2%20(V617F)%20Mutation%20by%20PCR%20-%20March%202007.pdf#xml=http://websearch-vrt.aruplab.net/isysquery/8edd8faa-25d9-47cc-b7d7-60193abd52e4/4/hilite/ through http://www.aruplab.com. Accessed July 2009.
Check, W. (2008 September). Class action for myeloproliferative disorders. CAP Today [On-line information]. Available online at http://www.cap.org/apps/cap.portal?_nfpb=true&cntvwrPtlt_actionOverride=%2Fportlets%2FcontentViewer%2Fshow&_windowLabel=cntvwrPtlt&cntvwrPtlt%7BactionForm.contentReference%7D=cap_today%2F0908%2F0908_class_action_2.html&_state=maximized&_pageLabel=cntvwr through http://www.cap.org. Accessed July 2009.
