MyeloSeq®

Test Details
MyeloSeq® is a targeted sequencing assay for 49 genes and gene hotspots that are recurrently mutated in myeloid neoplasms, such as AML and MDS. This assay is intended to be used for both initial diagnosis and measurable/minimal residual disease (MRD) monitoring. MyeloSeq® uses a high coverage (50,000x) unique molecular identifiers (UMIs)-based error corrected sequencing approach to achieve >95% sensitivity for previously identified mutations with VAFs ≥0.1%; sensitivity for newly detected variants is limited to 2% VAF. For post allogeneic hematopoietic stem cell transplant patients, MyeloSeq® can detect 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 ConditionsAcute Myeloid Leukemia (AML), Myelodysplastic Syndrome (MDS), Cytopenia, Clonal Cytopenia of Undetermined Significance (CCUS), Clonal Hematopoiesis of Indeterminate Potential (CHIP) , Myeloproliferative Neoplasm, Myeloid Disorders
MethodologyNext-generation sequencing using unique molecular identifiers (UMIs)
Turnaround TimeApproximately 9 business days
Specimen Requirements1.0 mL peripheral blood or bone marrow aspirate collected within 14 days
Specimen CollectionK2 EDTA tube
Minimum Specimen Volume0.5 mL peripheral blood or bone marrow aspirate
Storage/Transport ConditionsShip at room temperature within 72 hours of collection
Unacceptable ConditionsIncorrect specimen container orunlabeled specimen
CPT Code(s)81450, G0452 (Professional interpretation)