Myeloid Malignancies Mutation Panel by Next Generation Sequencing
Ordering Recommendation
Use to assess for somatic molecular 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), MDS/MPN overlap disorders such as chronic myelomonocytic leukemia (CMML) or others. Specification of the diagnosis under consideration is recommended. This test does not include copy number variants (CNVs); to test for the variants included in this test and CNVs, order Myeloid Malignancies Mutation and Copy Number Variation Panel by Next Generation Sequencing (3016621). If both tests are ordered for the same specimen, this test (2011117) will be canceled. To assess for inherited/germline variants, order Hereditary Myeloid Neoplasms Panel, Sequencing (3001842).
New York DOH Approval Status
Specimen Required
Lavender (EDTA), Green (sodium heparin), Bone Marrow (EDTA), or Bone Marrow (sodium heparin).
New York State Clients: Lavender (EDTA)
Transport 3 mL whole blood or bone marrow. (Min: 1.5 for whole blood, 1.0 mL for bone marrow)
Separate specimens must be submitted when multiple tests are ordered
New York State Clients: Transport 5 mL whole blood (Min: 3 mL) or 3 mL bone marrow (Min: 2 mL)
Refrigerated
Serum, plasma, grossly hemolyzed specimens, buccal brush or swab, FFPE tissue.
Specimen source is required.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
12-14 days
Reference Interval
By report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
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.
Hotline History
Hotline History
CPT Codes
81455
Components
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 |
Aliases
- 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
- eosinophilia
- juvenile myelomonocytic leukemia, JMML
- mastocytosis
- 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