82538-0
LOINC Code
| LOINC code | 82538-0 | |
|---|---|---|
| name | ||
| 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 | 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; P | |
Basic Attributes | ||
| class | MOLPATH.MUT | |
| type | 1 Laboratory | |
| order vs. observation | CALR Exon 9 Ful | |
History/Usage | ||
| first released | ||
| last updated | 2.73 | |
| last change type | MAJ - change to name field other than Component; | |
Related Names | ||
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