** New for 2019 - Myelodysplastic Syndrome related changes will now be included in this programme.
The programme is primarily aimed at participants using Next Generation Sequencing (NGS) panels to diagnose and prognosticate Acute Myeloid Leukaemia (AML) and Myelodysplastic Syndrome (MDS). One lyophilised sample from an AML or MDS patient or cell line will be issued and participants will be expected to test the sample with their in-house panels and report any pathogenic intragenic and/or regulatory element changes such as point mutations, small insertion, deletion and duplications events. Participants will not be requested to report larger changes affecting genome architecture or copy number changes (>50kb).
Please note, the number of samples issued per distribution will decreased from two to one in 2018/19.
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.