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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
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
myeloproliferative neoplasm, primary myelofibrosis, MPN-PMF
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
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
