BTK gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method 69479-4
LOINC Code
| LOINC code | 69479-4 | ||
|---|---|---|---|
| name | BTK gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method | ||
| 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 | BTK gene Fam Mut Anl Bld/T | ||
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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