This scheme is designed for laboratories performing gene panel testing in Myeloproliferative Neoplasms using current diagnostic algorithms (Tefferi & Pardanani, 2014) to diagnose and subtype the disease. One sample will be issued per round (1 round per year) alongside clinical scenarios and laboratories will be expected to test the samples according to the current testing pathways. Participants will primarily be expected to test the samples for known JAK2 (V617F and exon 12), CALR exon 9 and MPL exon 10 pathogenic variants, although testing of all of these genes is not mandatory.
In addition participants will be able to use more extensive Next Generation Sequencing (NGS) MPN panels and report any pathogenic intragenic and/or regulatory element changes such as point mutations, small insertion, deletion and duplication events. Participants will not be requested to report larger changes affecting genome architecture or copy number changes (>50kb).