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Myeloproliferative Neoplasms Core Mutation Analysis Panel by Next Generation Sequencing

Test Code

M MPN CORE

Test Synonyms

JAK2 (V617F), JAK2 Exon 12, CALR, MPL

Associations

Myeloproliferative Disease

Methodology

Next generation sequencing to detect the following mutations: JAK2, p.V617F, JAK2 exon 12, CALR (type 1 and type 2 mutations), and MPL codon 515 mutations; TruSight Myeloid (TSM) assay (Illumina, 2016)

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 acceptedted

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 samples)

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. 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
  4. Vainchenker W, Kralovics R. (2017) Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms.  Blood. 2017 Feb 9;129(6):667-679
  5. Ortmann, C. A. et al. (2015). Effect of Mutation Order on Myeloproliferative Neoplasms. New England Journal of Medicine, 372(7), 601-612
Trademarks

Illumina and TruSight are trademarks of illumina Inc,