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

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

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)

Specimen Preparation

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

Storage/Transport Temperature

Whole Blood or Bone Marrow: Refrigerated.
New York State Clients: Room temperature

Unacceptable Conditions

Serum, plasma, grossly hemolyzed specimens, buccal brush or swab, FFPE tissue.

Remarks

Specimen source is required.

Stability

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

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

12-14 days

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

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

N/A

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
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

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
Myeloid Malignancies Mutation Panel by Next Generation Sequencing