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Myeloid Extended Mutation Analysis Panel by Next Generation Sequencing

Test Code

M MYELOID EXTENDED

Test Synonyms

JAK2 (V617F and Exon 12), CALR (Type 1 and 2), MPL, ASXL1, CBL, CSF3R, ETV6/TEL, EZH2, IDH1, IDH2, KIT, KRAS, NRAS, RUNX1, SETB1, SF3B1, SRSF2, TET2, TP53

Associations

Myeloproliferative neoplasms, MDS/MPN overlap disorders

Methodology

Extended myeloid mutation analysis using Illumina TruSight Myeloid Panel targeted resequencing to assess for clinically relevant mutations in the following genes: JAK2 (V617F and Exon 12), CALR (Type 1 and 2), MPL, ASXL1, CBL, CSF3R, ETV6/TEL, EZH2, IDH1, IDH2, KIT, KRAS, NRAS, RUNX1, SETB1, SF3B1, SRSF2, TET2, TP53

Turnaround Time

7-10 days

Specimen Requirements

5.0 mL (min. 1.0 mL) whole blood EDTA preferred, heparin whole blood accepted
3.0 mL (min. 1.0 mL) bone marrow aspirate EDTA preferred, heparin accepted

Specimen Stability
EDTA whole blood or bone marrow stable at room temperature (18-25°C)
Storage & Handling

Whole blood and bone marrow ship in a Styrofoam container with a cool pack. (Do not allow cool/refrigerated pack to directly contact sample

Causes for Rejection

Insufficient DNA content; Insufficient specimen volume; Specimen at incorrect temperature; Incorrect anticoagulant

Reference Range

This assay is limited to the detection of SNVs and small to mid-size insertion/deletions (<100 bp) in genes targeted by this panel.  The assay does not detect whole gene or exon insertion and deletions, copy number variants or gene rearrangements (fusions).  The potential for false negatives for genetic mutations increases in samples with <10% disease type cellularity.

References
  1. Read more about Myeloproliferative Neoplasms testing by NGS here
  2. National Comprehensive Cancer Network. (2016). The NCCN Guidelines Myeloproliferative Neoplasms. Version 1.2017.
  3. Ortmann, C. A. et al. (2015). Effect of Mutation Order on Myeloproliferative Neoplasms. New England Journal of Medicine, 372(7), 601-612
  4. Arber et al. (2106).  The 2016 revision to the World Health Organization Classification of Myeloid Neoplasms and Acute Leukemia.  Blood. 2016 May 19;127(20):2391-405
  5. Vainchenker W, Kralovics R. (2017) Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms.  Blood. 2017 Feb 9;129(6):667-679
  6. Muhammad Tayyab, Z. N., & Noor, N. (2014). Distinct Gene Mutations, their Prognostic Relevance and Molecularly Targeted Therapies in Acute Myeloid Leukemia (AML). Journal of Cancer Science & Therapy, 6, 337-34
  7. Bejar, R. (2014). Clinical and genetic predictors of prognosis in myelodysplastic syndromes. Haematologica, 99(6), 956-964
Trademarks

illumina and TruSight are trademarks of illumina Inc,