TSC2 and PKD1 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA 81882-3
LOINC Code
| LOINC code | 81882-3 | ||
|---|---|---|---|
| name | TSC2 and PKD1 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA | ||
| description | Detection of deletions or duplications in the TSC2 gene and the adjacent PKD1 gene in a DNA sample by multiplex ligation probe amplification (MLPA) for the diagnosis of tuberous sclerosis and TSC2/PKD1 contiguous gene syndrome. This term was created for, but not limited in use to, the submitter's kit, MRC Holland MLPA P046-C1 TSC2 probemix. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | TSC2 gene & PKD1 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 | TSC2+PKD1 Del+Dup Bld/T MLPA | ||
Basic Attributes | |||
| class | MOLPATH.MUT | ||
| 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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