69479-4
LOINC Code
| LOINC code | 69479-4 | |
|---|---|---|
| name | ||
| description | This term is used for confirming a diagnosis of X-linked agammaglobulinemia (XLA) in males and identifying carrier females in families where a BTK mutation has been previously identified in affected individual. Mutation analysis only includes testing for the known familial mutation. | |
| status | ACTIVE | |
Fully-Specified Name | ||
| component | BTK 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 | Agammaglobulinaemia tyrosine kinase gene; AGMX1; AT; ATK; B cell progenitor kinase gene; Blood; BPK; Bruton agammaglobulinemia tyrosine kinase; Bruton agammaglobulinemia tyrosine kinase gene; Bruton's tyrosine kinase gene; Document; Fam Mut Anl; Finding; | |
Basic Attributes | ||
| class | MOLPATH.MUT | |
| type | 1 Laboratory | |
| order vs. observation | BTK gene Fam Mu | |
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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