CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN), Varies
Use
Rapid and sensitive detection of insertion and deletion-type mutations in exon 9 of CALR. Aids in distinguishing between reactive thrombocytosis and leukocytosis versus a myeloproliferative neoplasm (MPN), especially essential thrombocythemia (ET) and primary myelofibrosis (PMF). Informative in cases where JAK2 and MPL testing are negative, helpful in identifying MPN in ambiguous thrombocytosis, and aids prognostication of PMF and thrombosis risk in ET.
Special Instructions
Not provided.
Limitations
A positive result is not specific for a particular myeloproliferative neoplasm (MPN) diagnosis and must be correlated with clinical features for definitive diagnosis. A negative result does not exclude MPN or other neoplastic processes. This test detects deletions-insertions (delins) but not point mutations. Rare in-frame delins are typically benign. Amplification failure due to inadequate DNA or inhibitors may occur, requiring reattempt.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
CALR
Gene
LOINC Codes
- 77174-1 - CALR Exon 9 Mut Anl Bld/T
- 22637-3 - Path report.final Dx Spec
- 31208-2 - Specimen source
Result Turnaround Time
3-5 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)
Collection Instructions
Invert several times to mix blood. Label specimen as blood. Send whole blood specimen in original tube. Do not aliquot.
Storage Instructions
Ambient (preferred)/Refrigerate
Causes for Rejection
Gross hemolysis, paraffin-embedded clots, moderately to severely clotted