CAT #: MyMRD
MyMRD® Gene Panel Assay
Description of Test:
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 acute myeloid leukemia (AML), myeloproliferative neoplasms (MPN) and myelodysplastic syndrome (MDS). Deep sequencing provides unparalleled precision and detection of low-level mutations in patients, enabling clinicians to study important aberrations implicated in the causation, prognosis, and recurrence of myeloid disorders.
Indexed whole genome libraries are hybridized with MyMRD probes targeting mutation hotspots in a total of 23 genes. In addition to targeting single nucleotide variants (SNVs) and insertions/deletions in 21 genes, 5 structural variant breakpoints are also targeted in CBFB–MYH11, KMT2A, RUNX1-RUNX1T1. The power of the robust MyInformatics® annotation software, combined with long read lengths and enhanced depth of coverage, deliver superb sensitivity. MyMRD confidently and reproducibly detects mutations with a mutant allele frequency of 5 x 10-3, while some mutations, such as FLT3 ITDs, are detected at mutation allele frequencies as low at 1 x 10-3.
A completed patient consent form must be submitted for each sample sent to LabPMM.
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 profiles however, this may not reflect the heterogeneity of disease that can be exploited using MRD assessment.1,2 Moreover, multiple sampling is not feasible for many patients, thus the development of a sensitive and reliable assay to detect multiple mutations within one sample represents a significant advancement in guiding treatment decisions. With the MyMRD Gene Panel, one sample is enough to characterize at least one driving mutation in 90%-95% of all AMLs.
SNV and Indel Targets in 23 Genes (Exons)
ASXL1 DNMT3A KIT NPM1 SRSF2 BRAF FLT3 KMT2A NRAS TP53 CALR IDH1 KRAS PTPN11 ZRSR2 CEBPA IDH2 MPL RUNX1 CSF3R JAK2 MYH11 SF3B1
Structural Variants (Translocations and Partial Tandem Duplications in Intronic Structures) (5 targets)
CBFB-MYH11 KMT2A RUNX1-RUNX1T1
Please contact Invivoscribe, Inc. for more information.
1. Arber, DA et al. (2016) Blood. 127(20):2391-2405.
2. Sperling, AS et al. (2017) Cancer. 17(1):5–19.