KIT p.Asp816Val (D816V) Mutation Status for Mast Cell Disease (Accredited)

Programme objective: To assess a laboratory’s ability to accurately detect the KIT NM_000222.3:c.2447A>T p.(Asp816Val) variant.

Clinical/scientific background: Mastocytosis, a rare clonal disorder of the mast cell, is frequently associated with somatic activating variants (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 utilised. 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).

Suitability: Any molecular genetic approach for detection of the KIT NM_000222.3:c.2447A>T p.(Asp816Val) variant.

Sample type/distribution: Two lyophilised cell line-based samples are issued three times per annum. Trial schedule can be found here: https://www.uknegasli.co.uk/ega-pt-programmes/trial-schedules/

Participants are asked to submit qualitative results for KIT p.Asp816Val variant (mutation) status analysis, together with details of their 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.

Trial duration: Trials for this programme are live/open for a minimum of 4 weeks. Please note that trials issued/closing in August or December are extended by 1 week. An automated email is sent 2 days prior to the trial closing, to any participant that has not returned results, warning them of the trial closure date.

Subcontracted areas: Pre-issue and post-closure testing of samples for this programme are currently subcontracted, although the final decision about sample suitability lies with the EQA provider; no other activities in relation to this EQA programme are subcontracted.

Updates to the programme for current or upcoming year: Optional clinically relevant educational sample(s) formulated to challenge assay analytical sensitivity will continue to be periodically issued.

To register for this programme, please click here. 

We acknowledge the Mayo Clinic for kindly providing one of the cell lines utilised by this programme.