75735-1
LOINC Code
| LOINC code | 75735-1 | |
|---|---|---|
| name | ||
| description | Predictive testing for juvenile polyposis syndrome where a point mutation or small insertion, deletion, or duplication has been identified previously in an affected family member. | |
| status | ACTIVE | |
Fully-Specified Name | ||
| component | BMPR1A gene mutation analysis limited to known familial mutations | |
| 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 | 10q23del; Activin A receptor, type II-like kinase 3; ACVRLK3; ALK3; Blood; bone morphogenetic protein receptor, type IA; CD292; Document; Fam Mut Anl; Finding; Findings; JPS; Juvenile polyposis syndrome; LMTED; LTD; Molecular genetics; Molecular pathology | |
Basic Attributes | ||
| class | MOLPATH | |
| type | 1 Laboratory | |
| order vs. observation | BMPR1A Fam Mut | |
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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