94227-6
LOINC Code
| LOINC code | 94227-6 | |
|---|---|---|
| name | ||
| 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 | 2q37.3; AGT; AGT1; AGXT1; alanine-glyoxylate aminotransferase; Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; L-alanine: | |
Basic Attributes | ||
| class | MOLPATH | |
| type | 1 Laboratory | |
| order vs. observation | AGXT gene Del+D | |
History/Usage | ||
| first released | ||
| last updated | 2.68 | |
| last change type | ADD - added | |
Related Names | ||
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