CALR gene exon 9 full mutation analysis in Blood or Tissue by Molecular genetics method 82538-0
LOINC Code
LOINC code | 82538-0 | ||
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name | CALR gene exon 9 full mutation analysis in Blood or Tissue by Molecular genetics method | ||
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. | ||
status | ACTIVE | ||
Fully-Specified Name | |||
component | CALR gene exon 9 full mutation analysis | ||
property | Find = Finding | ||
time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||
system | Bld/Tiss Bld = Whole blood Tiss = Tissue, unspecified | ||
scale | Doc = Document: A document that could be in many formats (XML, narrative, etc.) | ||
method | Molgen = Molecular Genetics: General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods. | ||
Additional Names | |||
short name | CALR Exon 9 Full Mut Anl Bld/T | ||
Basic Attributes | |||
class | MOLPATH.MUT | ||
type | 1 Laboratory | ||
order vs. observation | Both | ||
Ask At Order Entry | |||
Ask at Order Entry (AOE) observations for a clinical observation or laboratory test. A LOINC term may represent a single AOE observation or a panel containing several AOE observations.
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Associated Observations | |||
LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations. | |||
History/Usage | |||
first released | |||
last updated | 2.73 | ||
last change type | MAJ - change to name field other than Component; | ||
change reason | Release 2.73: METHOD_TYP: Sequencing is too specific for this kind of testing where they use a combination of PCR and sequencing.; | ||
Related Names | |||
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