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Test ID LBOR0145 CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN)

Useful For

Rapid and sensitive detection of insertion and deletion-type mutations in exon 9 of CALR

 

An aid in distinction between reactive thrombocytosis and leukocytosis versus a myeloproliferative neoplasm (MPN), especially essential thrombocythemia (ET) and primary myelofibrosis (PMF), and is highly informative in cases in which JAK2 and MPL testing are negative

 

Especially helpful to the pathologist in those bone marrow cases with ambiguous etiology of thrombocytosis, equivocal bone marrow morphologic findings of MPN, and unexplained reticulin fibrosis

 

An aid in prognostication of PMF and thrombosis risk assessment in ET

Reporting Name

MPN, CALR Gene Mutation, Exon 9

Specimen Type

Varies


Shipping Instructions


Specimen must arrive within 7 days (168 hours) of collection.



Necessary Information


The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date of collection

4. Specimen source



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Peripheral blood

Container/Tube: EDTA (lavender top) or ACD-B (yellow top)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

3. Label specimen as blood.

Specimen Stability: Ambient (preferred)/Refrigerate

 

Specimen Type: Bone marrow

Container/Tube: EDTA (lavender top) or ACD-B (yellow top)

Specimen Volume: 2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send specimen in original tube.

3. Label specimen as bone marrow.

Specimen Stability: Ambient (preferred)/Refrigerate

 

Specimen Type: Extracted DNA from blood or bone marrow

Container/Tube: 1.5- to 2-mL tube

Specimen Volume: Entire specimen

Collection Instructions: Label specimen as extracted DNA from blood or bone marrow and include indication of volume and concentration of the DNA.

Specimen Stability: Frozen (preferred)/Refrigerate/Ambient


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies 7 days

Reject Due To

Hemolysis

Mild OK; Gross reject

Lipemia

NA

Icterus

NA

Other

Paraffin-embedded bone marrow aspirate clot, bone marrow biopsies, slides, or paraffin shavings, moderately to severely clotted

Reference Values

An interpretive report will be provided

Day(s) and Time(s) Performed

Monday through Friday; 8 a.m.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81219-CALR (calreticulin) (eg, myeloproliferative disorders), gene analysis, common variants in exon 9

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CALR MPN, CALR Gene Mutation, Exon 9 In Process

 

Result ID Test Result Name Result LOINC Value
MP020 Specimen 31208-2
36301 Final Diagnosis 34574-4

Testing Algorithm

The following algorithms are available in Special Instructions:

-Myeloproliferative Neoplasm: A Diagnostic Approach to Peripheral Blood

-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation

Method Name

Polymerase Chain Reaction (PCR) and Fragment Analysis

Forms

1. Hematopathology Patient Information (T676) in Special Instructions

2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request Form (T726) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/hematopathology-request-form.pdf)