Multiplex Polymerase Chain Reaction (PCR) with Capillary Electrophoresis
MPL gene mutations occur in cases of primary myelofibrosis (PMF) and essential thrombocythemia (ET) at a frequency of ~10% and 3% respectively. Testing for MPL mutations may aid in the diagnosis of these myeloproliferative neoplasms. MPL mutations are usually found in cases that test negative for the JAK2 V617F mutation, although a small number of patients have been reported with both mutations. This test will qualitatively detect MPL mutations (W515L, W515K, W515A, and S505N) in peripheral blood or bone marrow with a sensitivity down to 5% mutant allele.
Interpretive report provided.
The limit of detection of this assay is 10% mutation-bearing cells. Mutations may not be detected in samples with a neoplastic burden below this level. Rare mutations other than W515L, W515K, W515A or S505N (accounting for less than 2% of described MPL mutations) will not be detected.
2 - 7 days
- W515A Mutation
- W515K Mutation
- W515L Mutation
- MPL Mutation Detection
- S505N Mutation
Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice.
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.