Myeloid Malignancies Mutation Panel by Next Generation Sequencing
Use to assess for single gene somatic variants, including substitutions and smaller insertions and deletions that may have prognostic and/or therapeutic significance in acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN), or MDS/MPN overlap disorders such as chronic myelomonocytic leukemia (CMML). To assess for inherited/germline variants, see Hereditary Myeloid Neoplasms Panel, Sequencing (3001842). The diagnosis under consideration is recommended information when ordering this test.
New York DOH Approval Status
Lavender (EDTA), Green (sodium heparin), Bone Marrow (EDTA), or Bone Marrow (sodium heparin).
New York State Clients: Whole blood or bone marrow, lavender (EDTA), yellow (ACD), or green (sodium heparin)
Whole Blood or Bone Marrow: Transport 3 mL. (Min: 1.0 mL for bone marrow, 1.5 mL for whole blood)
Separate specimens must be submitted when multiple tests are ordered
Whole Blood or Bone Marrow: Refrigerated.
New York State Clients: Room temperature
Serum, plasma, grossly hemolyzed specimens, buccal brush or swab, FFPE tissue.
Specimen source is required.
Whole Blood or Bone Marrow: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 2 weeks; Refrigerated: 2 weeks; Frozen: Unacceptable
Massively Parallel Sequencing
Refer to report.
Laboratory Developed Test (LDT)
Genes tested: ANKRD26; ASXL1; ASXL2; BCOR; BCORL1; BRAF; CALR; CBL; CBLB; CEBPA; CSF3R; CUX1*; DDX41; DNMT1*; DNMT3A; ELANE; ETNK1; ETV6; EZH2; FBXW7; FLT3; GATA1; GATA2; GNAS; HNRNPK; IDH1; IDH2; IL7R; JAK1; JAK2; JAK3; KDM6A*; KIT; KMT2A; KRAS; LUC7L2; MPL; NOTCH1; NPM1*; NRAS; NSD1; PHF6; PIGA; PPM1D; PRPF40B; PRPF8; PTPN11; RAD21; RUNX1; SAMD9; SAMD9L; SETBP1; SF3B1; SH2B3; SMC1A; SMC3; SRSF2; STAG2; STAT3; STAT5B*; SUZ12*; TET2; TP53; U2AF1; U2AF2; UBA1; WT1; ZRSR2
*One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
|Component Test Code*||Component Chart Name||LOINC|
|2011118||Myeloid Malignancy Proposed Diagnosis||44833-2|
|2011119||Myeloid Malignancies Panel Specimen||31208-2|
|2011120||Myeloid Malignancies Panel Interp||35474-6|
|2011121||EER Myeloid Malignancies Panel by NGS||11526-1|
- Acute myeloid leukemia, AML
- atypical chronic myelogenous leukemia, aCML
- chronic eosinophilic leukemia not otherwise specified
- chronic myelogenous leukemia, BCR-ABL1 positive, CML
- chronic myelomonocytic leukemia, CMML
- chronic neutrophilic leukemia, CNL
- juvenile myelomonocytic leukemia, JMML
- myelodysplastic syndrome with isolated del(5q)
- myelodysplastic syndromes, MDS
- myelodysplastic/myeloproliferative neoplasm, MDS/MPN
- myeloproliferative neoplasm, essential thrombocythemia, MPN-ET
- myeloproliferative neoplasm, MPN
- myeloproliferative neoplasm, polycythemia vera, MPN-PV
- myeloproliferative neoplasm, primary myelofibrosis, MPN-PMF
- refractory anemia with excess blasts, RAEB
- refractory anemia with ring sideroblasts associated with marked thrombocytosis, RARS-T
- refractory anemia with ring sideroblasts, RARS
- refractory cytopenia with multilineage dysplasia, RCMD
- refractory cytopenia with unilineage dysplasia, RCUD