Use to assess for single gene mutations, including substitutions and smaller insertions and deletions that may have prognostic and/or therapeutic significance in AML, myelodysplastic syndromes, myeloproliferative neoplasms, or MDS/MPN overlap disorders such as chronic myelomonocytic leukemia.
Massively Parallel Sequencing
Lavender (EDTA), Green (sodium heparin), Bone Marrow (EDTA), or Bone Marrow (sodium heparin). Fresh-frozen tissue.
Whole Blood and Bone Marrow: Transport 3 mL. (Min: 1.5 mL)
Fresh-frozen Tissue: Transport 5 mg fresh-frozen tissue. (Min: 5 mg)
Separate specimens must be submitted when multiple tests are ordered
Whole Blood or Bone Marrow: Refrigerated.
Fresh-frozen Tissue: Frozen.
Serum, plasma, grossly hemolyzed specimens, buccal brush or swab, FFPE tissue.
Whole Blood or Bone Marrow: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Fresh-frozen Tissue: Ambient: Unacceptable; Refrigerated: Unacceptable; Frozen: 1 month
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, PRPF40B, PRPF8, PTPN11, RAD21, RUNX1, SETBP1, SF3B1, SH2B3, SMC1A, SMC3, SRSF2, STAG2, STAT3, STAT5B*, SUZ12*, TET2, TP53, U2AF1, U2AF2, 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|
|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
- Myeloproliferative neoplasm, essential thrombocythemia, MPN-ET
- Myeloproliferative neoplasm, MDS/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 dsysplasia, RCUD