MyeloSeq® MRD
For details about MyeloSeq®, please click here.
| Test Description | MyeloSeq® MRD is a tumor-informed (MRD; also referred to as molecular residual disease or minimal residual disease) assay used for monitoring patients with an established diagnosis of myeloid neoplasm. This test is not intended for MRD detection in patients with known recurrent fusions such as PML::RARA or core binding factor leukemias. |
| Relevant Conditions | Previously diagnosed myeloid neoplasms with existing sequencing data (MyeloSeq® or similar NGS panel), including clonal cytopenia of undetermined significance (CCUS), myelodysplastic syndromes (MDS), myeloproliferative neoplasm (MPN), myelodysplastic/ myeloproliferative neoplasm (MDS/MPN), and acute myeloid leukemia (AML); VEXAS syndrome |
| Methodology | High coverage targeted next-generation sequencing using custom hybridization capture with unique molecular identifiers and sequencing error correction |
| Reportable Range | Protein-altering SNVs and indels in the following genes are reported in sub-panels of up to 50 genes based on the diagnosis associated with the indication for testing. See Reportable Target Gene Sets below for sub-panel definitions. Complete Target Gene Set (54 genes) ASXL1, BCOR, BCORL1, BRAF (exon 15), CALR (exon 9), CBL (exons 8 and 9), CEBPA, CHEK2, CSF3R, CUX1, DDX41, DNMT3A, ETNK1 (exon 3), ETV6, EZH2, FLT3 (exons 13–15, 17, 20), GATA1, GATA2, GNB1 (exons 5 and 6), IDH1 (exon 4), IDH2 (exon 4), JAK2 (exons 12 and 14), KIT (exons 2, 8–11, 13, 17), KMT2A, KRAS (exons 2 and 3), MPL (exon 10), MYC (exons 1–3), NF1, NOTCH1 (exons 26–28, 34), NPM1 (exon 11), NRAS (exons 2–4), PHF6, PIGA, PPM1D (exon 6), PRPF8 (exons 30 and 31), PTPN11 (exons 3, 13, and 14), RAD21, RUNX1, SETBP1 (exon 4), SF3B1, SMC1A, SMC3, SRSF2 (exon 1), STAG2, STAT3 (exons 19–21), STAT5B (exons 14–16), SUZ12, TET2, TP53, U2AF1 (exons 2 and 6), UBA1 (exon 3), UBTF (exon 13), WT1, ZRSR2 Reportable Target Gene Sets – CCUS, MDS, MPN, MDS/MPN, AML, VEXAS syndrome (50 genes): all targets in the Complete Gene Set EXCLUDING: GATA1, MYC, STAT3, STAT5B – Transient abnormal myelopoiesis (TAM, 50 genes): all targets in the Complete Gene Set EXCLUDING: MYC, STAT3, STAT5B, and UBA1 Note: MyeloSeq® MRD is a tumor-only assay that cannot distinguish between germline and somatic variant origin. Likely germline variants are filtered from the report using a population minor allele frequency threshold of 0.001 (0.1%). MyeloSeq® MRD is not validated for the identification and interpretation of germline variants associated with inherited cancer susceptibility. |
| Limit of Detection | Known somatic variants, previously identified in the same patient: maximum limit of detection ≥0.05% variant allele fraction (VAF) New variants, not previously identified in the same patient: ≥2.0% VAF |
| Turnaround Time | Reports are issued within 14 days of specimens being received by the laboratory |
| Accepted Specimen Types | – Peripheral blood: lavender or pink top K2 EDTA tube – Bone marrow aspirate: lavender or pink top K2 EDTA tube – DNA extracted by a CLIA-licensed laboratory |
| Minimum Specimen Volume | Peripheral blood or bone marrow: 500 mcl |
| Specimen Stability | – Peripheral blood or bone marrow: room temperature (preferred) 14 days/refrigerated 14 days – Extracted DNA: indefinitely (extracted within 14 days of collection) |
| Storage/Transport Conditions | Ship at room temperature within 72 hours of collection |
| Unacceptable Conditions | Incorrect specimen container or unlabeled specimen |