CALR gene exon 9 full mutation analysis:Find:Pt:Bld/Tiss:Doc:MolgenLOINC code
Preferred Label : CALR gene exon 9 full mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen;
LOINC status : ACTIVE;
LOINC display name : CALR gene exon 9 full mutation analysis Molgen Doc (Bld/Tiss);
LOINC long common name : CALR gene exon 9 full mutation analysis in Blood or Tissue by Molecular genetics method;
LOINC short name : CALR Exon 9 Full Mut Anl Bld/T;
LOINC description : 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.;
Has component