69481-0
LOINC Code
| LOINC code | 69481-0 | |
|---|---|---|
| name | ||
| 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 | activin A receptor type II-like 1; Activin receptor-like kinase 1; ACVRL1+ENG gene; ACVRLK1; ALK1; ALK-1; Amplification; Blood; CD105; CD105 Ag; Del; Del+Dup; Deletions; Document; Dp; END; Endoglin; Finding; Findings; Genetics; Heredity; Heritable; HHT; H | |
Basic Attributes | ||
| class | MOLPATH.MUT | |
| type | 1 Laboratory | |
| order vs. observation | ACVRL1+ENG gene | |
History/Usage | ||
| first released | ||
| last updated | 2.66 | |
| last change type | MAJ - change to name field other than Component; | |
Related Names | ||
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