Laboratory products
The First Quantitative Mutation Kit Launched
Jul 15 2008
Traditionally, the diagnosis of MyeloProliferative Disorders (MPDs) is based on clinical, bone marrow, histological, immunophenotypic and cytogenetic criteria. The discovery of mutated JAK2 gene, this
disease-specific molecular marker, results in both simplification of the process and increased diagnostic accuracy. Defining the presence of this mutation is now part of clinical diagnostic algorithms to
prevent patient pain and avoid useless costs. The precise quantification of JAK2 V617F mutation load will be a help to measure response to existing or new targeted therapies.
Mutated JAK2 is a breakthrough biomarker for the management of blood-based disorders because it provides clear-cut information to physicians and patients about the nature of an elevated platelet or red blood cell count which occurs frequently. Ipsogen has developed a range of molecular assays based on mutations in the JAK2 gene, to which the company has worldwide exclusive intellectual property rights.
The mutation affecting the Janus Tyrosine Kinase 2 (JAK2 V617F) was identified by the INSERM team of Dr. Vainchenker in 2005. This somatic mutation was found to be the most common molecular abnormality in chronic (MPD). The highest frequency occurred in patients with PV (Polycythemia Vera, >90%) or ET (Essential Thrombocythemia, 70%); the lowest frequency was found in IMF patients (chronic Idiopathic MyeloFibrosis, 50%).
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