CFTR gene deletion and duplication mutation analysis in Blood or Tissue by MLPA 69480-2
LOINC Code
| LOINC code | 69480-2 | ||
|---|---|---|---|
| name | CFTR 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 CFTR gene. Full CFTR gene analysis combined with deletion/duplication anaylsis identify over 95% of the known genetic mutations. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | CFTR 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 | CFTR 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 | |||
| test rank | 18407 of 2000 most commonly performed tests by labs in USA | ||
| first released | |||
| last updated | 2.73 | ||
| last change type | MIN - change to field other than name | ||
| 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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