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Test Code LAB1230161 Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, Varies

Useful For

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

 

Evaluating for variants in JAK2, CALR, and MPL genes in an algorithmic process

Testing Algorithm

This reflex test sequentially evaluates for the common major gene variants associated with non-BCR-ABL1-positive myeloproliferative neoplasms until a variant is identified. The testing sequence is based on the reported frequency of gene variants in this disease group. Initial testing evaluates for the presence of the JAK2 V617F variant. If this result is negative or very low positive (0.06%-2%), testing proceeds with assessment for CALR gene variants. If the CALR result is also negative, then testing proceeds to evaluate for variants in exon 10 of the MPL gene. If either JAK2 V617F (>2%) or CALR variants are detected in the process, the testing algorithm ends; therefore, the complete reflex is followed only in the event of sequential negative variant. An integrated report is issued with the summary of test results.

 

For more information the following algorithms are available:

-Myeloproliferative Neoplasm: A Diagnostic Approach to Bone Marrow Evaluation

-Myeloproliferative Neoplasm: A Diagnostic Approach to Peripheral Blood Evaluation

Reporting Name

MPN (JAK2 V617F, CALR, MPL) Reflex

Specimen Type

Varies


Shipping Instructions


Specimen must arrive within 7 days 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: Whole 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 whole blood specimen in original tube. Do not aliquot.

3. Label specimen as blood.

Specimen Stability Information: Ambient (preferred)/Refrigerate 7 days

 

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 bone marrow specimen in original tube. Do not aliquot.

3. Label specimen as bone marrow.

Specimen Stability Information: Ambient (preferred)/Refrigerate 7 days

 

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 Information: Frozen (preferred)/Refrigerate/Ambient


Specimen Minimum Volume

Blood, bone marrow: 0.5 mL; Extracted DNA: 50 mcL at 20 ng/mcL concentration

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies 7 days

Reject Due To

Gross hemolysis Reject
Paraffin-embedded bone marrow aspirate clot or biopsy blocks
Slides
Paraffin shavings
Moderately to severely clotted
Reject

Reference Values

An interpretive report will be provided.

Supportive Data

Analytical sensitivity is determined at 0.06% (by dilution of a JAK2 V617F-positive cell line into a negative cell line DNA).

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

Specimen Retention Time

Whole blood, bone marrow: 2 weeks; Extracted DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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)
81339-MPL (MPL proto-oncogene, thrombopoietin receptor) (eg, myeloproliferative disorder) gene analysis; sequence analysis, exon 10 (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 No LOINC Needed
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

Forms

If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.