PMS2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method 79419-8
LOINC Code
| LOINC code | 79419-8 | ||
|---|---|---|---|
| name | PMS2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method | ||
| description | The coding sequences of PMS2 are amplified by polymerase chain reaction and each PCR product (amplicon) then sequences bidirectionally using Sanger sequencing methodology. The multiple-ligation-probe amplification assay (MLPA) was performed to detect copy number variations (deletions and duplications) in the PMS2 gene. Exact breakpoints are not determined for any large deletions or duplications detected by this analysis. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | PMS2 gene deletion+duplication & full mutation analysis | ||
| 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 | PMS2 gene Del+Dup + Full Mut Anl Bld/T | ||
Basic Attributes | |||
| class | MOLPATH | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
Ask At Order Entry | |||
Ask at Order Entry (AOE) observations for a clinical observation or laboratory test. A LOINC term may represent a single AOE observation or a panel containing several AOE observations.
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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 | 18104 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 | ||
Related Names | |||
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