Mastocytosis, a rare clonal disorder of the mast cell, is frequently associated with somatic activating point mutations within KIT, most commonly D816V. 95% of Systemic Mastocytosis patients are positive for D816V when a sensitive assay is used. The detection of KIT D816V is not only important diagnostically but also for therapeutic decision making as the D816V mutation also confers resistance to some Tyrosine Kinase Inhibitors (TKI).
In this programme participants are provided with lyophilised cell-lines for KIT D816V mutation status analysis. The cell line has been kindly provided by The Mayo Clinic. Participants are asked to submit qualitative results, together with details of the methodology. 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.
Pre issue testing of samples for this programme is subcontracted, although the final decision about sample suitability lies with the EQA provider; no other activities in relation to this EQA programme are subcontracted.