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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

Reject Due To

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

Clinical Information

The JAK2 V617F variant is present in 95% to 98% of patients with polycythemia vera, 50% to 60% of patients with primary myelofibrosis (PMF), and 50% to 60% of patients with essential thrombocythemia (ET). Detection of the JAK2 V617F variant helps establish the diagnosis of a myeloproliferative neoplasm (MPN). However, a negative JAK2 V617F result does not indicate the absence of MPN. Other important molecular markers in BCR::ABL1-negative MPN include CALR exon 9 alterations (20%-30% of PMF and ET) and MPL exon 10 alterations (5%-10% of PMF and 3%-5% of ET). Variants in JAK2, CALR, and MPL are essentially mutually exclusive. A CALR variant is associated with decreased risk of thrombosis in both ET and PMF and confers a favorable clinical outcome in patients with PMF. A triple negative (JAK2 V617F, CALR, and MPL-negative) genotype is considered a high-risk molecular signature in PMF.

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.

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