CFTR gene mutations found [Identifier] in Blood or Tissue by MS.MALDI-TOF Nominal 78382-9
LOINC Code
| LOINC code | 78382-9 | ||
|---|---|---|---|
| name | CFTR gene mutations found [Identifier] in Blood or Tissue by MS.MALDI-TOF Nominal | ||
| description | This term was created for, but is not limited in use to, Sequenom Laboratories' HerediT Cystic fibrosis mutation carrier test, which uses matrix-assisted laser desorption/ionization (MALDI) mass spectrometry to detect 136 mutations and 5 variants that are known to be clinically significant. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | CFTR gene targeted mutation analysis | ||
| property | Prid = Presence or identity: Prid stands for “Presence or identity”, is used for assays that detect whether or not an analyte of a particular kind is present, and if it is, to identify the specific analyte. | ||
| 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 | Nom = Nominal: Nominal or categorical responses that do not have a natural ordering. (e.g., names of bacteria, reported as answers, categories of appearance that do not have a natural ordering, such as, yellow, clear, bloody. | ||
| method | MS.MALDI-TOF | ||
Additional Names | |||
| short name | CFTR Mut Anl Bld/T MS.MALDI-TOF Nom | ||
Basic Attributes | |||
| class | MOLPATH.MUT | ||
| type | 1 Laboratory | ||
| order vs. observation | Observation | ||
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 | 2.63 | ||
| last change type | MIN - change to field other than name | ||
| change reason | Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section. | ||
Related Names | |||
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