JAK2 Exon 12 Mutation Screening (not V617F)

Besides Chronic Myeloid Leukaemia (CML) there are a few other important chronic myeloproliferative diseases (CMPD), namely Polycythaemia Vera (PV, exceeded proliferation of red blood cells), Essential Thrombocythaemia (ET) and chronic idiopathic myelofibrosis. The acquired Janus kinase 2 (JAK2) V617F point mutation can be found in more than 90% of patients with PV and in 50% of patients with other CMPDs1. The JAK2 V617F mutation is covered by patents from Ipsogen.

This kit detects additional mutations for the codons 537-542 in exon 12, in particular Lys539Leu, His538Gln-Lys539Leu, del537-538insLeu, and Asn542, Glu543del in genomic and cDNA samples, as described by Scott et al.2

1Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Baxter et al., Lancet 2005; 365: 1054

2 JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. Scott et al., N Engl J Med. 2007; 356; 459-68

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