AGXT gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method 94227-6
LOINC Code
| LOINC code | 94227-6 | ||
|---|---|---|---|
| name | AGXT gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method | ||
| description | Full gene sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the AGXT gene. Additionally, gene dosage analysis, such as by multiplex ligation-dependent probe amplification (MLPA), is used to test for the presence of large deletions and duplications in this gene. This test is useful for confirming a diagnosis of primary hyperoxaluria type 1 (PH1) and for testing at-risk individuals with a family history of PH1 in the absence of known mutations in the family. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | AGXT 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 | AGXT gene 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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