CAT #: MyAML® - CLIA

MyAML® 194 targeted NGS gene panel – CLIA

  • Description of Test:

    MyAML® is a next generation targeted sequencing product. Using customized design, the coding regions and potential genomic breakpoints within known somatic gene fusions are sequenced with 300bp paired end reads on an Illumina MiSeq instrument to an average depth of coverage >1000x. Using Invivoscribe’s proprietary MyInformatics® annotation and bioinformatics database, we identify single nucleotide variants (SNVs), indels, inversions and translocations. In addition, allelic frequencies can also be used to investigate potential aneuploidy and clonality. A completed patient consent form must be submitted for each sample sent to LabPMM.

  • Overview:

    It is becoming increasingly evident that understanding the clonal architecture of AML patients is vital for successful treatments. It is likely that many different mutations, epigenetic aberrations or downstream abnormalities can generate the same clinical picture. However these differences are responsible for the variable responses observed with therapy, which is a major feature in patients with AML. Therefore, since varied somatic mutations affect patient outcomes, conventional genotyping is no longer the most suitable method for screening patients.

    The MyAML® is a CLIA validated assay which identifies clinically actionable, pathogenic, and potentially pathogenic mutations in 194 genes associated with AML. Using the latest version in Next-Generation Sequencing (NGS) chemistry, MyAML® identifies all somatic mutations, large and small insertions/ deletions and translocations under NCCN/ELN guidelines, as well as novel somatic variants that may have prognostic significance for AML.

    Screening with MyAML® allows generating treatment decisions based on knowing all relevant mutations in both the prevalent clone and those in ‘secondary’ or ‘tertiary’ clones that may become the new prominent clone leading to remission.

    Structural Rearrangements Under NCCN/ELN Guidelines

    Inv(16) t(16;16) t(8;21) t(15;17) +8 t(9;11) -5 5q- -7 7q- 11q23 inv(3) t(3;3) t(6;9) t(9;22)

    (These regions also include genes from the “Fusions and Gene Rearrangements” below)

    Fusions and Gene Rearrangements (36 Genes)

    (Including 5’UTRs, Exons, Recombination Intron Breakpoint Hotspots, Non-coding Exons, and 3’UTRs)

    ABL1 ADGRG7 AFF1 BCR CBFB CREBBP DEK EIF4E2 ELL ETV6 GAS6 GAS7 KAT6A KAT6B KMT2A MECOM MKL1 MLLT10 MLLT1 MLLT3 MLLT4 MYH11 NSD1 NUP214 NUP98 PICALM PML RARA RBM15 RPN1 RUNX1 RUNX1T1 SEPT5 SET TFG TMEM255B

    Genes (158 Genes)

    (Including 5’UTRs, Exons, Non-coding Exons, and 3’UTRs)

    ABCC1 ACVR2B ADRBK1 AKAP13 ANKRD24 ARID2 ARID4B ASXL1 ASXL2 ASXL3 BCOR BCORL1 BRINP3 BRPF1 BUB1 CACNA1E CBL CBX5 CBX7 CDC73 CEBPA CEP164 CPNE3 CSF1R CSTF2T CTCF CYLD DCLK1 DDX1 DDX23 DHX32 DIS3 DNAH9 DNMT1 DNMT3A DNMT3B DYRK4 EED EGFR EP300 EPHA2 EPHA3 ETV3 EZH2 FANCC FLT3 GATA1 GATA2 GFI1 GLI1 HDAC2 HDAC3 HNRNPK HRAS IDH1 IDH2 IKZF1 JAK1 JAK2 JAK3 JMJD1C KDM2B KDM3B KDM6A KDM6B KIT KMT2B KMT2C KRAS MAPK1 METTL3 MST1R MTA2 MTOR MXRA5 MYB MYC MYLK2 MYO3A NF1 NOTCH1 NOTCH2 NPM1 NRAS NRK OBSCN PAPD5 PAX5 PDGFRA PDGFRB PDS5B PDSS2 PHF6 PKD1L2 PLRG1 POLR2A PRDM16 PRDM9 PRKCG PRPF3 PRPF40B PRPF8 PTEN PTPN11 PTPN14 PTPRT RAD21 RBBP4 RBMX RPS6KA6 SAP130 SCML2 SETBP1 SETD2 SF1 SF3A1 SF3B1 SMC1A SMC3 SMC5 SMG1 SNRNP200 SOS1 SPEN SRRM2 SRSF2 SRSF6 STAG2 STK32A STK33 STK36 SUDS3 SUMO2 SUPT5H SUZ12 TCF4 TET1 TET2 THRB TP53 TRA2B TRIO TTBK1 TYK2 TYW1 U2AF1 U2AF1L4 U2AF2 UBA3 WAC WAPAL WEE1 WNK3 WNK4 WT1 ZBTB33 ZBTB7B ZRSR2

     

Service Details

References

  1. Döhner K et al. (2014) Intermediate-risk acute myeloid leukemia therapy: current and future. Hematology Am Soc Hematol Educ Program 1:34-43.
  2. Estey EH (2014) Acute myeloid leukemia: 2014 update on risk-stratification and management. Am J Hematol 89:1063-81.

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