The discovery of the gain of function mutation JAK2 V617F in 2005, revolutionised the diagnosis of myeloproliferative neoplasms. The substitution of Valine to Phenylalanine results in the loss of the inhibitory effect of the JH2 domain, resulting in growth factor-independent clonal expansion. The V617F mutation can be found in 95% of Polycythaemia Vera and 50% of both Essential Thrombocythaemia and Primary Myelofibrosis.
In this programme, participants are provided with lyophilised cell-lines for JAK2 V617F mutation status analysis. The material supplied must only be used for EQA purposes. Participants are asked to submit qualitative results together with details of the methodology. If available, quantitative results can also be submitted but will not be performance monitored. Instructions for storage, reconstitution and use of the lyophilised samples are included with the samples. Three send-outs are issued per annum, with each send-out consisting of two samples, covering a wide range of allelic burdens. V617F mutations, if present, should be expected at 'diagnostic' levels, although periodically low level 'MRD' samples may be dispatched as additional educational samples.
No activities in relation to this EQA programme are subcontracted.