The TRUPCR® CALR Mutation Testing Kit is a qualitative assay for the detection of CALR mutations in genomic DNA from whole blood of subjects suspected of myeloproliferative neoplasms (MPN). This CALR Mutation Testing Kit enables the identification of the two major CALR mutations (Type 1 and Type 2).
MPN are a group of diseases that affect blood-cell formation. In all forms of MPN, a bone marrow problem leads to increased levels of blood cells circulating in the bloodstream. MPN is characterized by chronic accumulation of different mature blood cell types in blood which are either Philadelphia chromosome-positive (Ph+) or negative (Ph–). Calreticulin (CALR) is a highly conserved endoplasmic reticulum (ER) luminal Ca2+-binding chaperone protein with a critical role in the process of glycoprotein folding and a number of other cellular functions. Calreticulin is encoded by the CALR gene on the chromosome 19. Somatic mutations in exon 9 of CALR are the second most prevalent acquired nucleotide changes in Ph-negative myeloproliferative neoplasms (MPNs), except of polycythaemia vera (PV). The two specific mutations are most common, L367fs*46 (Type 1 mutation) which represents a 52-bp deletion flanked by 7 base pairs of identical sequence and a K385fs*47(Type 2), which results from a 5-bp insertion, and represent an inverse duplication of the five nucleotides preceding the insertion.
