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Test Code MPLVS MPL Exon 10 Mutation Detection, Varies


Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

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

Specimen Volume: 3 mL

Collections Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube. Do not aliquot.

3. Label specimen as whole blood.

Specimen Stability: Ambient (preferred)/Refrigerate

 

Specimen Type: Bone marrow

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

Specimen Volume: 2 mL

Collections Instructions:

1. Invert several times to mix bone marrow.

2. Send specimens in original tube. Do not aliquot.

3. Label specimen as bone marrow.

Specimen Stability: Ambient (preferred)/Refrigerate

 

Specimen Type: Extracted DNA from whole blood or bone marrow

Container/Tube: 1.5- to 2- mL tube

Specimen Volume: Entire specimen

Collection Instructions:

1. DNA must be extracted from blood or bone marrow within 7 days of collection.

2. Label specimen as extracted DNA and source of specimen

3. Provide volume and concentration of the DNA.

Specimen Stability Information: Frozen (preferred) 1 year/Refrigerated/Ambient

Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). We cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied.


Forms

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

Useful For

Aiding in the distinction between a reactive cytosis and a myeloproliferative neoplasm

Method Name

Sanger Sequencing

Reporting Name

MPL Exon 10 Mutation Detection, V

Specimen Type

Varies

Specimen Minimum Volume

Whole blood, Bone marrow: 0.5 mL; Extracted DNA: 50 mcL at 20 ng/mcL concentration

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies 7 days

Reference Values

An interpretive report will be provided.

Interpretation

The results will be reported as 1 of 2 states:

-Negative for MPL exon 10 variant

-Positive for MPL exon 10 variant

If the result is positive, a description of the variant at the nucleotide level and the altered protein sequence is reported.

 

Positive variant status is highly suggestive of a myeloproliferative neoplasm but must be correlated with clinical and other laboratory features for a definitive diagnosis. Negative variant status does not exclude the presence of a myeloproliferative or other neoplasm.

Clinical Reference

1. Defour JP, Chachoua I, Pecquet C, Constantinescu SN. Oncogenic activation of MPL/thrombopoietin receptor by 17 mutations at W515: implications for myeloproliferative neoplasms. Leukemia. 2016;30(5):1214-1216. doi:10.1038/leu.2015.271

2. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006;3(7):e270

3. Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood. 2006;108(10):3472-3476

4. Kilpivaara O, Levine RL. JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. Leukemia. 2008;22(10):1813-1817. doi:10.1038/leu.2008.229

5. Greenfield G, McMullin MF, Mils K. Molecular pathogenesis of the myeloproliferative neoplasms. J Hematol Oncol. 2021;14(1):103

Day(s) Performed

Monday through Friday

Report Available

5 to 8 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

CPT Code Information

81339-MPL (myeloproliferative leukemia virus oncogene, thrombopoietin receptor, TPOR) (eg, myeloproliferative disorder), exon 10 sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MPLVS MPL Exon 10 Mutation Detection, V 62948-5

 

Result ID Test Result Name Result LOINC Value
MP051 Specimen Type 31208-2
602600 Interpretation 69047-9
602601 Signing Pathologist 19139-5