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CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN) [A Test In Focus]

The new CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN) assay is now available to the Mayo Clinic practice and Mayo Medical Laboratories clients.  This test should be ordered on patients with clinical suspicion of essential thrombocythemia or primary myelofibrosis. View this post for details and a video overview by Dr. Rong He.

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  • Aiding in distinction between reactive cytosis and myeloproliferative neoplasm, especially essential thrombocythemia (ET) and primary myelofibrosis (PMF), and also possibly for disease monitoring.
  • In particular, detection of CALR mutation is highly informative in cases of suspected myeloproliferative neoplasm (MPN) in which JAK2 and MPL testing are negative.
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Submit only 1 of the following specimens:

  • Peripheral blood
  • Bone marrow
  • Extracted DNA from blood or bone marrow
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When should I order this test?

This test should be ordered on patients with clinical suspicion of essential thrombocythemia or primary myelofibrosis. It is especially helpful in cases with ambiguous etiology of thrombocytosis, equivocal bone marrow morphologic findings of MPN, and unexplained reticulin fibrosis. The assay is also useful for prognostication of primary myelofibrosis and thrombotic risk assessment in essential thrombocythemia.


Key points:

  • The CALR gene encodes for calreticulin, a calcium-binding protein involved in signaling and protein expression.
  • Insertions and deletions in exon 9 of the CALR gene are the second most frequent somatic mutation after JAK2V617F in essential thrombocytosis and primary myelofibrosis patients.
  • CALR mutations are mutually exclusive of JAK2 and MPL mutations.
  • This assay provides rapid and sensitive detection of insertion- and deletion-type mutations in exon 9 of CALR.
  • Detection of CALR mutations is highly informative in cases of suspected MPN in which the bone marrow morphology shows equivocal findings, and JAK2 V617F and MPL gene test are negative.
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  • Polymerase Chain Reaction (PCR) and Fragment Analysis

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  • Day(s) and Time(s) Test Performed: Monday through Friday; 8 a.m.
  • Analytic Time: 3 days
This entry was posted in Hematology, Myeloproliferative Disorders, Test in Focus, Testing.

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