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Test Code MPNML MPL Exon 10 Sequencing, Reflex, Varies


Specimen Required


Only orderable as a reflex. For more information see MPNCM / Myeloproliferative Neoplasm, CALR with Reflex to MPL, Varies.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole Blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD-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 whole blood.

Specimen Stability Information: Ambient (preferred)/Refrigerate

 

Specimen Type: Bone marrow

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

 

Specimen Type: Extracted DNA from 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/Refrigerate/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.


Useful For

Aiding in the distinction between a reactive cytosis and a myeloproliferative neoplasm when JAK2 V617F testing result is negative

 

Evaluating for variants in MPL in an algorithmic process for MPNCM / Myeloproliferative Neoplasm, CALR with Reflex to MPL, Varies

Method Name

Only orderable as a reflex. For more information see MPNCM / Myeloproliferative Neoplasm, CALR with Reflex to MPL, Varies.

 

Sanger Sequencing

Reporting Name

MPL Exon 10 Sequencing, Reflex

Specimen Type

Varies

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reference Values

Only orderable as a reflex. For more information see MPNCM / Myeloproliferative Neoplasm, CALR with Reflex to MPL, Varies.

 

An interpretive report will be provided.

Interpretation

The results will be reported as 1 of the 3 following states:

-Positive for CALR variant

-Positive for MPL variant

-Negative for CALR and MPL variants

 

Positive variant status is highly suggestive of a myeloid neoplasm and clinicopathologic correlation is necessary in all cases.

 

Negative variant status does not exclude the presence of a myeloproliferative neoplasm or other neoplasms.

Clinical Reference

1. Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013;369(25):2379-2390

2. Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013;369(25):2391-2405

3. Rotunno G, Mannarelli C, Guglielmelli P, et al. Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia. Blood. 2014;123(10):1552-1555

4. Tefferi A, Lasho TL, Finke CM, et al. CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons. Leukemia. 2014;28(7):1472-1477

5. 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

6. 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

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

Day(s) Performed

Monday through Friday

Report Available

7 to 10 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