Test Name MyMRD - NGS gene panel assay Assay Type Next-Generation Sequencing (NGS) CLIA validated assay Method Description Indexed whole genome libraries are hybridized with MyMRD probes targeting mutation hotspots in a total of 23 genes (ASXL1 BRAF CALR CEBPA CSF3R DNMT3A FLT3 IDH1 IDH2 JAK2 KIT KRAS MPL NPM1 NRAS PTPN11 RUNX1 SF3B1 SRSF2 TP53 ZRSR2 CBFB-MYH11 KMT2A RUNX1-RUNX1T1). In addition to targeting single nucleotide variants (SNVs) and indels in the first 21 genes, 5 structural variant breakpoints within the final 3 genes are also targeted. Coupling comprehensive gene coverage with enhanced depth of coverage, long read lengths, and the power of our robust MyInformatics™ annotation software and bioinformatics database, MyMRD confidently and reproducibly detects mutations with a mutant allele frequency of 5x10-3 , while some mutations, such as FLT3 ITDs, are detected at mutation allele frequencies as low at 1x10-3 . A completed patient consent form must be submitted for each sample sent to LabPMM Indications for Testing • Identify tumor-specific markers for post-treatment monitoring • Monitor and evaluate disease recurrence Interpretation Turn-around Time Specimen Requirements Shipping Conditions Storage Conditions An interpretive report will be issued indicating the detected pathogenic mutations and their frequencies in the interrogated sample. 7 to 14 business days •  3 mL of peripheral blood in Heparin, EDTA or ACD •  1 mL of bone marrow in Heparin, EDTA or ACD •  1 µg of purified, high quality genomic DNA Ambient or Cool; Do not freeze • Room Temp up to 72 hours •  2-8 °C up to 7 days NGS Cancer Panels LabPMM Services Catalog 2019 | 61 Clinical Information Minimal residual disease (MRD) detection has proven to be useful in the clinical management of patients with leukemia and can facilitate the development of new therapies. Patients with myeloid neoplasms are typically divided into different prognostic groups based upon both cytogenetics and traditional molecular profiles1 ; however, this may not reflect the heterogeneity of disease2 that can be exploited using MRD assessment. Moreover, multiple sampling is not feasible for several patients and thus the development of a sensitive and reliable assay to detect several mutations within one sample represents a significant advancement in guiding treatment decisions. The MyMRD is a hotspot panel that detects all classes of variants identified in a precisely defined set of targets that commonly drive myeloid malignancies including AML, MPN and MDS. It can detect SNV, indels and translocations to the genomic basepair, giving unparalleled precision and detection of low level mutations in patients. The MyMRD assay, detects at least one driver mutation in 90%-95% of all AMLs. This gene panel is validated to a 5x10-3 level of detection for all targeted sites. MyMRD® References 1.  Arber, DA et al. (2016). The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood, 127(20):2391-2405. 2.  Sperling, AS et al. (2017). The genetics of myelodysplastic syndrome: from clonal hematopoiesis to secondary leukemia. Nature Reviews. Cancer, 17(1):5–19. List of Genes on the MyMRD Panel SNV and Indel Targets in Genes (Exons) (23 genes) ASXL1 BRAF CALR CEBPA CSF3R DNMT3A FLT3 IDH1 IDH2 JAK2 KIT KMT2A KRAS MPL MYH11 NPM1 NRAS PTPN11 RUNX1 SF3B1 SRSF2 TP53 ZRSR2 Structural Variants (Translocations and Partial Tandem Duplications in Intronic Structures) CBFB-MYH11 KMT2A RUNX1-RUNX1T1 60