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Test Code MPNRM Myeloproliferative Neoplasm (MPN), JAK2 V617F with Reflex to CALR and MPL

Additional Codes

 

MAYO Test ID

MPNR

EPIC Test ID

LAB6504

 

Useful For

Aiding in the distinction between a reactive cytosis and a chronic myeloproliferative disorder

 

Evaluates for mutations in JAK2, CALR, and MPL in an algorithmic process

Testing Algorithm

This reflex test sequentially evaluates for the common major gene mutations associated with non-BCR/ABL1-positive myeloproliferative neoplasms until a mutation is identified. The testing sequence is based on the reported frequency of gene mutations in this disease group. Initial testing evaluates for the presence of the JAK2 V617F mutation. If this result is negative or very low positive (0.06%-0.6%), testing proceeds with assessment for CALR mutations. If the CALR result is also negative, then testing proceeds to evaluate for mutations in exon 10 of the MPL gene. If either JAK2 V617F (<0.06%) or CALR mutations are detected in the process, the testing algorithm ends; therefore, the complete reflex is followed only in the event of sequential negative mutation. An integrated report is issued with the summary of test results.

 

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

Reporting Name

MPN (JAK2 V617F, CALR, MPL) Reflex

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: Blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD solution B)

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: Lavender top (EDTA) or yellow top (ACD solution B)

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 provide indication of volume and concentration of the DNA.

Specimen Stability: Frozen (preferred)/Refrigerate/Ambient


Specimen Minimum Volume

Blood and Bone marrow: 0.5 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 or biopsy blocks, slides, paraffin shavings, moderately to severely clotted

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday through Friday; 12 p.m.

Analytic Time

7 days

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

81270-JAK2 (Janus kinase 2) (eg, myeloproliferative disorder) gene analysis, p.Val617Phe (V617F) variant

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

81403-MPL (myeloproliferative leukemia virus oncogene, thrombopoietin receptor, TPOR) (eg, myeloproliferative disorder), exon 10 sequence (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MPNR MPN (JAK2 V617F, CALR, MPL) Reflex In Process

 

Result ID Test Result Name Result LOINC Value
39725 MPNR Result In Process
36687 Final Diagnosis 22637-3

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CALX CALR, Gene Mutation, Exon 9, Reflex No, (bill only) No
MPLR MPL Exon 10 Mutation Detection, R No, (bill only) No

Method Name

Point Mutation Detection in DNA Using Quantitative Polymerase Chain Reaction (PCR)

Forms

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)