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CALR Mutation Analysis
- Molecular
This test uses fragment analysis of CALR exon 9 for detecting insertion/deletion mutations, followed by bi-directional sequencing for non-Type 1/2 mutations. Automatic reflex for sequencing of non-typical mutations. Approved for New York specimens.
Clinical Significance
Calreticulin (CALR) is endoplasmic reticulum protein that binds calcium and plays a role in signaling and protein expression. It is also found in the nucleus and believed to play a role in transcription regulation. Somatic insertions or deletions in exon 9 of CALR gene are detected in 67% of JAK2/MPL negative essential thrombocythemia (ET) and 88% of JAK2/MPL negative primary myelofibrosis (PMF) patients.
CALR mutations are not detected in polycythemia vera (PV) patients. CALR mutations appear to be mutually exclusive of JAK2 and MPL mutations. It has been reported that patients with mutated CALR have a lower risk of thrombosis and longer overall survival than patients with JAK2 mutation.
Specimen Requirements
Bone Marrow Aspirate: 2 mL in EDTA tube.
Peripheral Blood: 5 mL in EDTA tube.
Note: Test is DNA-based. Please select Extract & Hold - DNA If specimen hold service is desired.
Storage and Transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible. Please select extract & hold - DNA if specimen hold service is desired. NYS clients please provide date and time of Collection.
CPT Code(s)*
81219
*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.
Last Updated: August 27, 2025