CALR Mutation Analysis

Code
MOG-CALX-01BT
Test
Active-Compendium
81219
Clinical
Oncology,Pathology
<p>Bone Marrow Aspirate: 2 mL in EDTA tube.<br/>
Peripheral Blood: 5 mL in EDTA tube.<br/>
Note: Test is DNA-based. Please select Extract & Hold - DNA If specimen hold service is desired.</p>
Hematologic Diseases
Myeloproliferative neoplasm (MPN)
Molecular
Global
Flag Active
True
Orderable Test Description
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.
Orderable Turn Around Time
10 Days
Keywords
CALR
MPN
CALR Mutation Analysis
calreticulin
myeloproliferative neoplasms
polycythemia vera
essential thrombocythemia
primary myelofibrosis
MPN Extended Reflex Panel
Meta Description
Bi-directional sequencing of exon 9 of the CALR (calreticulin) gene with fragment length analysis for enhanced detection of low levels of insertion/deletion mutations. Testing is approved for specimens from the state of New York.
Orderable Biomarkers
CALR
NY Approved
True
Orderable Biomarkers JSON
{"DNA Sequencing": {"SNVs + Indels": ["CALR"]}}
Keywords string
CALR, MPN, CALR Mutation Analysis, calreticulin, myeloproliferative neoplasms, polycythemia vera, essential thrombocythemia, primary myelofibrosis, MPN Extended Reflex Panel CALR Mutation Analysis
Title URL
calr-mutation-analysis
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.

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.