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HelpTest Code MPLR MPL Exon 10 Mutation Detection, Reflex, Varies
Reporting Name
MPL Exon 10 Mutation Detection, RSpecimen Type
VariesSpecimen Required
Only orderable as a reflex. For more information see MPNR / Myeloproliferative Neoplasm (MPN), JAK2 V617F with reflex to CALR and MPL.
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | 7 days |
Reference Values
Only orderable as a reflex. For more information see MPNR / Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, Varies.
An interpretive report will be provided.
Specimen Retention Time
Whole blood, bone marrow: 2 weeks; Extracted DNA: 3 monthsPerforming 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 |
|---|---|---|
| MPLR | MPL Exon 10 Mutation Detection, R | 62948-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 36672 | Final Diagnosis | 22637-3 |
Method Name
Only orderable as a reflex. For more information see MPNR / Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, Varies.
Sanger Sequencing
Useful For
Aiding in the distinction between a reactive cytosis and a chronic myeloproliferative disorder
Evaluates for mutations in MPL in an algorithmic process for the MPNR / Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, 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 Janus kinase 2 gene (JAK2) codes for a tyrosine kinase (JAK2) that is associated with the cytoplasmic portion of a variety of transmembrane cytokine and growth factor receptors important for signal transduction in hematopoietic cells. Signaling via JAK2 activation causes phosphorylation of downstream signal transducers and activators of transcription (STAT) proteins (eg, STAT5) ultimately leading to cell growth and differentiation. BCR::ABL1-negative myeloproliferative neoplasms (MPN) frequently harbor an acquired single nucleotide mutation in JAK2 characterized as c.G1849T; p. Val617Phe (V617F).
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). It has also been described infrequently in other myeloid neoplasms, including chronic myelomonocytic leukemia and myelodysplastic syndrome. Detection of the JAK2 V617F is useful to help establish the diagnosis of 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 variant (20%-30% of PMF and ET) and MPL exon 10 variant (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.
Interpretation
An interpretation will be provided under the MPNR / Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, Varies
Day(s) Performed
Monday through Friday