MyeloSeq®

For details about MyeloSeq® MRD (molecular residual disease), please click here.

Test DescriptionMyeloSeq® is a targeted sequencing assay that covers up to 50 genes and gene hotspots recurrently mutated in patients with myeloid neoplasms. This test is intended for the initial evaluation of patients with known or suspected myeloid neoplasms to identify clinically significant single nucleotide variants (SNVs) and small insertions and deletions (indels) to inform diagnosis, risk stratification, and therapeutic selection.
Relevant ConditionsKnown or suspected myeloid neoplasms, including clonal cytopenia of undetermined significance (CCUS), myelodysplastic syndromes (MDS), myeloproliferative neoplasm (MPN), myelodysplastic/ myeloproliferative neoplasm (MDS/MPN), and acute myeloid leukemia (AML); T- and NK-cell large granular lymphocytic (LGL) leukemia; VEXAS syndrome
MethodologyHigh coverage targeted next-generation sequencing using custom hybridization capture with unique molecular identifiers and sequencing error correction
Reportable RangeProtein-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
– T-cell and NK-cell large granular lymphocytic (LGL) leukemia (50 genes): all targets in the Complete Gene Set EXCLUDING: GATA1, MYC, SMC3, SUZ12
 
Note: MyeloSeq® 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® is not validated for the identification and interpretation of germline variants associated with inherited cancer susceptibility.
Limit of Detection≥2.0% variant allele fraction (VAF)
Turnaround TimeReports 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
– Fresh tissue
– Formalin-fixed, paraffin-embedded (FFPE) tissue (decalcifiedspecimens may only be accepted if EDTA-decalcified)
– DNA extracted by a CLIA-licensed laboratory
Minimum Specimen Volume– Peripheral blood or bone marrow: 500 mcl
– FFPE tissue: minimum tumor area ≥5 mm2
Specimen Stability– Peripheral blood or bone marrow: room temperature (preferred) 14 days/refrigerated 14 days
– Extracted DNA: indefinitely (extracted within 14 days of collection)
– FFPE tissue: indefinitely
Storage/Transport ConditionsShip at room temperature within 72 hours of collection
Unacceptable ConditionsIncorrect specimen container or unlabeled specimen
CPT Code(s)81450, G0452 (Professional interpretation)