CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN), Reflex, Varies
Use
This test aids in distinguishing between a reactive cytosis and a chronic myeloproliferative disorder. It evaluates mutations in the CALR gene as part of an algorithmic process for Myeloproliferative Neoplasms (MPN) where JAK2 V617F is initially tested with reflex to CALR and MPL, if necessary. A CALR mutation is associated with a decreased risk of thrombosis in both essential thrombocythemia (ET) and primary myelofibrosis (PMF) and can indicate a favorable clinical outcome in PMF patients.
Special Instructions
Not provided.
Limitations
A positive CALR mutation result is not specific for a particular subtype of myeloproliferative neoplasm and clinicopathologic correlation is necessary in all cases. A negative result does not exclude the presence of a myeloproliferative neoplasm or other neoplastic process. Rare mutations other than V617F may be present that interfere with primer or probe binding, potentially causing false-negative results.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
No genes
Gene
LOINC Codes
- 77174-1 - CALR Exon 9 Mut Anl Bld/T
- 22637-3 - Path report.final Dx Spec
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD solution B)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Label specimen as blood.
Storage Instructions
Ambient (preferred) 7 days/Refrigerate 7 days
Causes for Rejection
Gross hemolysis, paraffin shavings, slides, moderately to severely clotted, paraffin embedded bone marrow aspirate clot or biopsy blocks.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 7 days |