Mastocytosis, a rare clonal disorder of the mast cell, is frequently associated with somatic activating variants (point mutations) within KIT, most commonly p.Asp816Val. Approximately 95% of systemic mastocytosis patients are positive for p.Asp816Val when an assay with appropriate sensitivity is used. The detection of KIT p.Asp816Val is not only important diagnostically but also for therapeutic decision making, as the p.Asp816Val variant also confers resistance to some Tyrosine Kinase Inhibitors (TKIs).
For this programme participants are provided with lyophilised cell line material for KIT p.Asp816Val variant (mutation) status analysis. The cell line utilised has been kindly provided by The Mayo Clinic. Participants are asked to submit qualitative results, together with details of the methodology. Optional quantitative information (‘mutation load’) may also be submitted for educational purposes. 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.
To register for this programme, please click here.