ACVRL1 gene+ENG gene deletion and duplication mutation analysis in Blood or Tissue by MLPA 69481-0
LOINC Code
| LOINC code | 69481-0 | ||
|---|---|---|---|
| name | ACVRL1 gene+ENG gene deletion and duplication mutation analysis in Blood or Tissue by MLPA | ||
| description | This term is used for testing the presence of large genomic duplications and deletions within the ACVRL1 and ENG genes, which are commonly associated with hereditary hemorrhagic telangiectasia (HHT). | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | ACVRL1 gene+ENG gene deletion+duplication | ||
| 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 | MLPA | ||
Additional Names | |||
| short name | ACVRL1+ENG gene Del+Dup Bld/T MLPA | ||
Basic Attributes | |||
| class | MOLPATH.MUT | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
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 | 2.66 | ||
| last change type | MAJ - change to name field other than Component; | ||
| change reason | Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats. | ||
Related Names | |||
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