MPL Mutation Detection by Capillary Electrophoresis
Also known as: MPL
Use
This test is designed to detect mutations W515K, W515L, W515A, and S505N in exon 10 of the MPL gene. Detection of MPL mutations is used for diagnosing patients with myeloproliferative neoplasms and suggests a diagnosis of either primary myelofibrosis (PMF) or essential thrombocythemia (ET) in a subset of patients who are negative for mutations in the JAK2 gene.
Special Instructions
The test detects specific mutations in the MPL gene useful for patients suspected of having myeloproliferative neoplasms with non-mutated JAK2, often relevant in the context of essential thrombocythemia or idiopathic myelofibrosis. Transport whole blood or bone marrow in lavender (EDTA) and ensure it is refrigerated, not frozen.
Limitations
This test will not detect mutations other than those specified (W515K, W515L, W515A, S505N) or mutations in other locations within the MPL gene or in other genes. It has a detection limit of 5 percent mutant allele and should not be used alone for a diagnosis of malignancy. It is not intended to detect minimal residual disease and must be interpreted within the context of additional clinical data.
New York Approved
Methodology
Other
Biomarkers
LOINC Codes
- 62948-5
- 31208-2
Result Turnaround Time
7-12 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
1 mL
Container
lavender (EDTA)
Collection Instructions
Do not freeze whole blood.
Storage Instructions
Refrigerated. Do not freeze.
Causes for Rejection
Plasma, serum, FFPE tissue blocks/slides, or frozen tissue. Specimens collected in anticoagulants other than EDTA. Clotted or grossly hemolyzed specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |
| Frozen | Unacceptable |