PMS2 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA 79417-2
LOINC Code
| LOINC code | 79417-2 | ||
|---|---|---|---|
| name | PMS2 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA | ||
| description | Deletion/duplication testing for PMS2 gene is performed by using the multiple ligation probe amplification (MLPA) platform. The MLPA will detect full PMS2 gene deletions and multiple-exon and single-exon deletions and duplications. Balanced translocations are not detected by this method. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | PMS2 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 | PMS2 gene Del+Dup Bld/T MLPA | ||
Basic Attributes | |||
| class | MOLPATH.DELDUP | ||
| 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 | |||
| first released | |||
| last updated | 2.65 | ||
| last change type | MIN - change to field other than name | ||
Related Names | |||
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