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Test Code:
090-71-3009

Order Name:
CALR (Calreticulin) Mutation **

 
Useful For:

Rapid and sensitive detection of insertion and deletion-type mutations in exon 9 of CALR.
An aid in distinction between reactive thrombocytosis and leukocytosis versus a myeloproliferative neoplasm (MPN), especially essential thrombocythemia (ET) and primary myelofibrosis (PMF), and is highly informative in cases in which JAK2 and MPL testing are negative
Especially helpful to the pathologist in those bone marrow cases with ambiguous etiology of thrombocytosis, equivocal bone marrow morphologic findings of MPN, and unexplained reticulin fibrosis.
An aid in prognostication of PMF and thrombosis risk assessment in E.

 
Methodology:
Fluorescent based PCR technique using capillary electrophoresis
 
AliasesName:
Calreticulin
Myeloproliferative Neoplasm (MPN)
Myeloproliferative Disorder
Essential Thrombocythemia
Primary Myelofibrosis
Myelofibrosis
CALR
 
 
 
Test Code:
090-71-3009

Order Name:
CALR (Calreticulin) Mutation **

 
Collection Specimen Or Container:
Blood/ EDTA Blood (Lavendor Top) 3 mL, 4 tubes

Document Required
Filled Requisition Form of Ramathibodi Human Genetic laboratory
 
Specimen Testing Type:
EDTA Blood 3 mL, 4 tubes
 
 
 
Test Code:
090-71-3009

Order Name:
CALR (Calreticulin) Mutation **

 
Method detail:
Fluorescent based PCR technique using capillary electrophoresis
 
Schedule:
N/A **Sent Out to Ramathibodi
 
Turnaround Time:
Received specimen to reported within 10-14 days
(Exception for official holidays)
 
Performing Location:
Ramathibodi
Referral Lab Services, Laboratory Department 14160-2
 
 
 
Test Code:
090-71-3009

Order Name:
CALR (Calreticulin) Mutation **

 
 
Clinical Information:

The most frequent genetic mutation in BCR-ABL1-negative myeloproliferative neoplasm (MPN), essential thrombocythemia (ET), and primary myelofibrosis (PMF) is the JAK2V617F mutation, which is present in approximately 50% to 60% of patients. It serves as a confirmatory molecular marker of these diseases. Mutations in the MPL gene are found in an additional 5% to 10% of ET and PMF cases. It was recently discovered that somatic mutation (insertions and deletions) in exon 9 of the CALR gene is the second most frequent somatic mutation after JAK2 in ET and PMF patients, and it is mutually exclusive of JAK2 and MPL mutations.(1,2) It has a frequency of approximately 49% to 88% in JAK2 and MPL-wild type (WT) ET and PMF, and is not found in polycythemia vera (PV) patients.(1-4) Therefore, CALR mutation serves as an important diagnostic molecular marker in ET and PMF.
The CALR gene encodes for calreticulin, a multifunctional protein with a C-terminus rich in acidic amino acids and a KDEL ER-retention motif. All the pathologic CALR mutations reported to date are out-of-frame insertion and/or deletions (indel) in exon 9, generating a 1 base-pair (bp) frame shift and a mutant protein with a novel C-terminus rich in basic amino acids and loss of the KDEL ER-retention signal. The most common mutation types are 52-bp deletion (c.1092_1143del, L367fs*46) and 5-bp insertion (c.1154_1155insTTGCC, K385fs*47), and they comprise approximately 85% of CALR mutations in MPN.(1,2) CALR mutations have been found in hematopoietic stem and progenitor cells in MPN patients(2) and may activate the STAT5 signaling pathway.(1) They are associated with decreased risk of thrombosis in ET (1,3-5), and better survival in PMF compared to JAK2 mutations.(5)

 
Reference Value:

 
 
Interpretation:
An interpretive report will be provided