Test Code: CJK

JAK2 V617F/G1849T Mutation Screening

Test Methodology:

This test is intended for the detection and quantification of JAK2 V617F/G1849T allele in genomic DNA extracted from peripheral blood of subjects with suspected myeloproliferative neoplasm (MPN) by realtime PCR. The absence of the JAK2 V617F/G1849T mutation does not exclude the presence of other JAK2 mutations. The test can report false Negative results in case of additional mutations located in nucleotides 88504 to 88622. The JAK2 V617F mutation is detected in >95% of patients with polycythemia vera (PV), 50–60% of patients with essential thrombocythemia (ET), and in 50% of patients with primary myelofibrosis (PMF). JAK2 V617F has been also detected in some rare cases of chronic myelomonocytic leukemia, myelodysplasic syndrome, systemic mastocytosis, and chronic neutrophilic leukemia, but in 0% of CML.Traditionally, the diagnosis of MPNs was based on clinical, bone marrow histology and cytogenetic criteria. The discovery of a disease-specific molecular marker resulted in both simplification of the process and increased diagnostic accuracy. Detection of the JAK2 V617F mutation is now part of the reference WHO 2008 criteria for the diagnosis of BCR-ABL negative MPN (Table 1), and presence of this mutation is a major criterion for diagnostic confirmation.

Specimen Required: 

6ml EDTA Blood

Turnaround Time : 

Maximum to 5 days