PRKAR1A gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method 94214-4
LOINC Code
| LOINC code | 94214-4 | ||
|---|---|---|---|
| name | PRKAR1A gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method | ||
| description | Full gene sequence analysis is performed to detect the presence of a mutation in all coding regions and intron/exon boundaries of the PRKAR1A gene. In addition, deletion/duplication analysis, such as by array comparative genomic hybridization (aCGH) or quantitative PCR (qPCR), is used to test for the presence of large deletions or duplications. This test is used to aid in the diagnosis of Carney complex (CNC) and suspected acrodysostosis-1 with hormone resistance.[GHR gene: PRKAR1A] | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | PRKAR1A 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 | PRKAR1A Del+Dup + Full Mut Anl Bld/T | ||
Basic Attributes | |||
| class | MOLPATH | ||
| 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 | 2.68 | ||
| last change type | ADD - added | ||
Related Names | |||
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