• Test Code:
    4376
  • Department:
  • Test Synonyms:
    JAK2 V617FCalreticulinMPL
  • CPT Code(s):
    812198127081403
Background:

The majority of patients with BCR-ABL-negative myeloproliferative neoplasms (MPNs) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).  These patients carry an acquired mutation in either JAK2, CALR or MPL and these mutations are usually mutually exclusive.  Screening for these mutations not only helps to establish a diagnosis but also have an impact on the clinical outcome of these neoplasms. 

Our laboratory takes a reflexive approach to testing; JAK2 V617F will be tested first, if negative, Calreticulin testing will be performed.  If Calreticulin is negative, then MPL testing will be performed. 

Reasons for Referral:

The JAK2, CALR and MPL testing is done to molecularly subclassify myeloproliferative neoplasms, which is important in making the correct diagnosis as well as determining prognosis, and, in some cases, predicting responses to targeted and/or non-targeted therapy.

Methodology:

JAK2 V617F: Allele-specific polymerase chain reaction. 

Calreticulin: Polymerase chain reaction (PCR) of exon 9 of the CALR gene followed by size-based fragment analysis and/or direct DNA sequencing. 

MPL: Sanger sequencing of exon 10 

Sensitivity:
JAK2 V617F: This assay is quantitative for the V617F JAK2 mutation and is capable of detecting V617F at 0.1% abundance in a background of wild-type gene targets. 

Calreticulin: 1% mutant allele burden for calreticulin mutation detection. 

MPL: Approximately 20% mutant allele abundance in a background of wild-type gene targets.

Specimen Requirements:

  • Blood:5-7mL EDTA or ACD (Solution A or B)
  • Bone Marrow: 2-3mL EDTA or ACD (Solution A or B)

  • A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information.

    Test Performed (Days):

    Weekly

    Turn Around Time:

    7-14 days

    Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.
  • References:

    Additional Info:

    The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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