CFTR gene mutation analysis [interpretation] in Blood or Tissue Qualitative by MS.MALDI 77017-2
LOINC Code
| LOINC code | 77017-2 | ||
|---|---|---|---|
| name | CFTR gene mutation analysis [interpretation] in Blood or Tissue Qualitative by MS.MALDI | ||
| 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 | Imp = Impression/interpretation of study | ||
| 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 | Ord = Ordinal: Ordered categorical responses, e.g., 1+, 2+, 3+; positive, negative; reactive, indeterminate, nonreactive. | ||
| method | MS.MALDI-TOF | ||
Additional Names | |||
| short name | CFTR Mut Anl Bld/T MS.MALDI-Imp | ||
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 | 2.63 | ||
| 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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