JAK2 Exon 12, 13, 14 and 15 Mutation Analysis

The JAK2^V617F (exon 14) mutation analysis can be used in conjunction with bone marrow histology and cytogenetic analysis to assist in the diagnosis of myeloproliferative neoplasma (MPN). The JAK2^V617F mutation is found in almost all patients with polycythemia vera (PV) and in nearly one-half of those with idiopathic myelofibrosis (IMF) and with essential thrombocythemia (ET). A small percentage (~3.3%) of JAK2 mutation positive patient contain other non-V617F mutations within exons 12 to 15.

In vitro studies indicate that this analysis has a mutation detection sensitivity of 15%. Mutations occurring outside of the analyzed region of the JAK2 gene will not be detected by this assay.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Reverse transcription polymerase chain reaction RT-PCR and Sanger sequencing