3016621
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Myeloid Malignancies Mutation and Copy Number Variation Panel by Next Generation Sequencing

MYE CNV
Example Reports
Enhanced Report
Negative
Positive

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Additional Technical Information

Ordering Recommendation

Use to assess for somatic sequence variants, copy number variants (CNVs), and copy number-neutral loss of heterozygosity (CN-LOH) 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 other myeloid and lymphoid neoplasms. Specification of the diagnosis under consideration is recommended. Because information on CNVs is necessary for myeloid neoplasm subclassification per the most updated guidelines, this test (3016621) is recommended for initial diagnostic workup and therapeutic monitoring. To test for sequence variants without CNVs and CN-LOH in limited clinical scenarios, order Myeloid Malignancies Mutation Panel by Next Generation Sequencing (2011117). If both tests are ordered for the same specimen, 2011117 will be canceled. To assess for inherited/germline variants, refer to Hereditary Myeloid Neoplasms Panel, Sequencing (3001842).

New York DOH Approval Status

This test is not New York state approved. There are no New York state-approved laboratories available. Submit a Non-Permitted Laboratory Request Form (NPL) to the NYDOH prior to collection of specimen. If NPL is approved by NYDOH, and sample is received at ARUP, testing will be performed.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA), green (sodium heparin), bone marrow (EDTA), or bone marrow (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.

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

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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
10/23/2023
X
N/A

CPT Codes

81455

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Components

Component Test Code* Component Chart Name LOINC
3016622 MYE CNV Proposed Diagnosis 29548-5
3016623 MYE CNV Specimen 31208-2
3016624 MYE CNV Interp 101397-8
3016626 EER Myeloid Mutation Panel NGS, DelDup 11502-2
* 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 myeloid leukemia, aCML
  • chronic eosinophilic leukemia not otherwise specified, CEL
  • chronic myeloid leukemia, BCR-ABL1 positive, CML
  • chronic myelomonocytic leukemia, CMML
  • chronic neutrophilic leukemia, CNL
  • Clonal hematopoiesis of indeterminate potential (CHIP)
  • eosinophilia
  • Idiopathic cytopenia of undetermined significance (CCUS)
  • juvenile myelomonocytic leukemia, JMML
  • mastocytosis
  • myelodysplastic syndrome with isolated del(5q)
  • myelodysplastic syndromes, MDS
  • myelodysplastic/myeloproliferative neoplasm, MDS/MPN
  • myeloid neoplasms secondary to therapy
  • Myeloid Neoplasms with Germline Predisposition
  • Myeloid/Lymphoid Neoplasms (M/LN) with Eosinophilia
  • myeloproliferative neoplasm, essential thrombocythemia, MPN-ET
  • myeloproliferative neoplasm, MPN
  • myeloproliferative neoplasm, polycythemia vera, MPN-PV
  • myeloproliferative neoplasm, primary myelofibrosis, MPN-PMF
Myeloid Malignancies Mutation and Copy Number Variation Panel by Next Generation Sequencing