CALR Mutation
Detection Real-Time PCR Kit
Calreticulin [CALR] Mutation Detection Real-Time PCR kit is an in-vitro, multiplex, assay for the qualitative detection and differentiation of Type I and Type II CALR mutations occurring in exon 9 on chromosome 19p13.2. The kit could be used with human genomic DNA extracted from whole blood, purified peripheral blood, lymphocytes, polynuclear cells and granulocytes.
SKU
-
100 Rxns- NCMD24002
-
50 Rxns- NCMD24002_01
-
20 Rxns- NCMD24002_02
Clinical Relevance
The classical myeloproliferative neoplasms (MPNs) Philadelphia chromosome Negative (Ph−), namely polycythemia vera, essential thrombocythemia (ET), and primary myelofibrosis (PMF), represent a group of disorders characterized by excessive proliferation of a specific subset of blood cells. Genetic mutations in JAK2 and MPL have been recognized as the key drivers of disease development and serve as the established molecular markers for diagnosis. However, around 40% of Ph-MPN patients do not exhibit JAK2 and MPL mutations.
Recently, it has been discovered that insertions and deletions in calreticulin (CALR) exon 9 can result in a shift in the gene's open reading frame (ORF) and the misconfiguration of the CALR protein. This genetic anomaly has been identified in approximately 60% of ET and PMF patients who lack JAK2 and MPL mutations.CALR is a calcium-binding protein in the endoplasmic reticulum (ER) lumen across most human cells. Its role is crucial in regulating the quality of glycoprotein synthesis and folding.
Additionally, CALR plays a role in various cellular processes, such as apoptotic cell clearance, cell adhesion, migration, and autoimmune response. Given the significant impact of CALR exon 9 mutations on JAK-STAT pathway dysregulation and platelet production, these prevalent genetic variations are now recognized as the primary drivers of disease development. As a result, CALR has been incorporated into the recommended diagnostic criteria for essential thrombocythemia (ET) and primary myelofibrosis (PMF).
