JAK2 V617F Mutation Reflex Profile, EDTA Blood

JAK2 V617 Mutation Reflex Test Overview

The JAK2 V617 Mutation Reflex test is a specialised genetic test designed to detect the presence of the JAK2 V617F mutation and other related mutations in the JAK2 gene. This test plays crucial role in diagnosing and managing myeloproliferative neoplasms (MPNs), which include conditions like polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). 

By identifying specific genetic mutations, the JAK2 V617F Mutation Reflex Test aids in establishing an accurate diagnosis and guiding appropriate treatment strategies.

The test begins with a highly sensitive DNA-based assay to detect JAK2 V617F mutation. In cases where the result is negative or shows a very low positive (0.06%-2%), the test reflexes to analyse other mutations in exons 12 to 15 of the JAK2 gene using advanced techniques such as Sanger sequencing or next-generation sequencing (NGS).

The JAK2 V617 Mutation test, with reflex to JAK2 Ex-12, CALR Ex-9 Mutation, and MPL W515, S505 Mutation, is a molecular diagnostic test used for the detection of specific mutations associated with myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). It serves as a molecular marker for MPNs and is particularly useful in suspected cases of PV, ET, or PMF. If the JAK2 V617F mutation is detected, additional mutation analysis for other genes is not necessary as it confirms the presence of an MPN. However, if the JAK2 V617F mutation is not detected, reflex testing for mutations in JAK2 Ex-12, CALR Ex-9, and MPL W515/S505 is performed to explore alternative genetic abnormalities associated with MPNs. This comprehensive molecular testing approach provides valuable information for the diagnosis and classification of MPNs, enabling healthcare professionals to guide appropriate treatment decisions and optimize patient care.