MyeloSeq™-HD
| Test Details | A targeted sequencing assay for 49 genes and gene hotspots that are recurrently mutated in myeloid neoplasms, such as MDS and AML. This assay is intended to be used for both initial diagnosis and measurable/minimal residual disease (MRD) monitoring. MyeloSeq-HD uses a high coverage (12Gbases) unique molecular identifiers (UMIs)-based error corrected sequencing approach to achieve >95% sensitivity for previously identified mutations with VAFs ≥0.25%; sensitivity for newly detected variants is limited to 2% VAF. For post allogeneic hematopoietic stem cell transplant patients, MyeloSeq-HD can detect mixed chimerism. The following genes and gene hotspots are targeted: ASXL1, BCOR, BCORL1, BRAF (exon 15), CALR (exon 9), CBL (exons 7,8,9), CEBPA, CHEK2, CSF3R, CUX1, DDX41, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, IDH1 (exon 4), IDH2 (exon 4), JAK2 (exons 12 and 14), KIT, KRAS (exons 2 and 3), MPL (exon 10), MYC (exons 1,2,3), NF1, NOTCH1, NPM1 (exon 11), NRAS (exons 2, 3, 4), PHF6, PIGA, PPM1D (exon 6), PTPN11 (exons 3, 13, 14), RAD21, RUNX1, SETBP1 (exon 4), SF3B1, SMC1A, SMC3, SRSF2 (exons 1 and 2), STAG2, STAT3 (exons 19, 20, 21), STAT5B (exons 14, 15, 16), SUZ12, TET2, TP53, U2AF1 (exons 2 and 6), UBA1 (exon 3), WT1, ZRSR2 |
| Relevant condition(s) | Acute Myeloid Leukemia, Myelodysplastic Syndrome, Cytopenia, Clonal Cytopenia of Undetermined Significance, Clonal Hematopoiesis of Indeterminate Significance, Myeloproliferative Neoplasm, Myeloid Disorders |
| Methodology | Next-Generation Sequencing using Unique Molecular Identifiers (UMIs) |
| Frequency | Batched weekly |
| Turnaround Time | Approximately 14 business days |
| Specimen Requirements | 1.0 mL peripheral blood or bone marrow aspirate collected within 14 days |
| Specimen Collection | K2 EDTA tube |
| Minimum Specimen Volume | 0.5 mL peripheral blood or bone marrow aspirate |
| Storage/Transport Conditions | Ship at room temperature within 72 hours of collection |
| Unacceptable Conditions | FFPE tissue, incorrect specimen container, unlabeled specimen |
| CPT Code(s) | 81450 |