JAK2 V617F Mutation Detection: Laboratory Comparison of Two Kits Using RFLP and qPCR

Aim: The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis with an increased demand for testing using molecular techniques. The latter are diversified and all aim to simplify the methods employed for detection. Materials and Methods: In this study, two detection kits were compared: one using polymerase chain reaction (PCR)-restriction fragment length polymorphisms (RFLP) (JAK2 Activating Mutation assay; InVivoScribe Technologies, San Diego, CA) and the other using real-time quantitative PCR (JAK2 MutaScreen Kit assay; Ipsogen, Marseilles, France). Results: A total of 80 reactions were compared using the two techniques and the results showed a perfect concordance between the two methods. Conclusion: We conclude that both PCR-RFLP and quantitative PCR are extremely useful and sensitive techniques for the detection of the JAK2 V617F mutation with quantitative PCR being more time effective and less expensive.