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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.


Useful For

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

 

Evaluates 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 Special Container
Varies Varies

Reject Due To

Gross hemolysis Reject
Paraffin-embedded bone marrow aspirate clot or biopsy blocks
Slides
Paraffin shavings
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 is 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.

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.

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

Specimen Retention Time

Extracted DNA: 3 months

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