MPL Exon 10 Mutation Detection, Varies
Use
DNA sequence variants in exon 10 of the myeloproliferative leukemia virus oncogene (MPL) have been detected in approximately 5% of patients with primary myelofibrosis (PMF) and essential thrombocythemia (ET), which are hematopoietic neoplasms classified within the broad category of myeloproliferative neoplasms. MPL codes for a transmembrane tyrosine kinase, and the most common MPL variants are single base pair substitutions at codon 515. These alterations have been shown to promote constitutive, cytokine-independent activation of the JAK/STAT signaling pathway and contribute to the oncogenic phenotype. Identification of MPL variants can aid in the diagnosis of a myeloproliferative neoplasm and is highly suggestive of either PMF or ET.
Special Instructions
Not provided.
Limitations
A positive result is not specific for a particular diagnosis and clinicopathologic correlation is necessary in all cases. A negative result does not exclude the presence of a myeloproliferative or other neoplasm. Analytical sensitivity is approximately 20%, meaning there must be about 20% of the altered DNA in the specimen for reliable detection. Furthermore, variants outside of exon 10 have not yet been reported.
New York Approved
Methodology
Sanger (Sanger)
Biomarkers
No genes
Gene
LOINC Codes
- 62948-5 - MPL gene Mut Tested Bld/T
- 31208-2 - Specimen source
- 69047-9 - Geneticist review
- 19139-5 - Pathologist name
Result Turnaround Time
5-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
0.5 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send specimen in original tube. Do not aliquot. Label specimen as blood.
Causes for Rejection
Gross hemolysis, Bone marrow biopsies, Slides, paraffin shavings, Moderately to severely clotted