CALR gene exon 9 full mutation analysis in Blood or Tissue by Molecular genetics method

CALR Exon 9 Full Mut Anl Bld/T

Definition

Full sequencing analysis of exon 9 in the CALR gene is performed to establish a diagnosis of essential thrombocythemia (ET) or primary myelofibrosis (PMF).[OMIM: 109091] All the pathologic CALR mutations reported to date are frame-shift mutations due to somatic insertions or deletions.[PMID: 24325359] Two variants, a 52-base pair deletion (c.1092_1143del, L367fs*46) and a 5-bp insertion (c.1154_1155insTTGCC, K385fs*47), are the more common and account for more than 80% of the CALR mutations seen.[PMID: 24325356] Variants outside of exon 9 are not detected by this test.

Blood; CALR Exon 9; calreticulin; cC1qR; CRT; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; HEL-S-99n; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; PCR; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue