69478-6
LOINC Code
| LOINC code | 69478-6 | |
|---|---|---|
| name | ||
| description | This term is used for testing the presence of large genomic duplications and deletions within the AGXT gene, which is associated with the primary hyperoxaluria type 1 (PH1) disorder. | |
| status | ACTIVE | |
Fully-Specified Name | ||
| component | AGXT 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 | 2q37.3; AGT; AGT1; AGXT1; alanine-glyoxylate aminotransferase; Amplification; Blood; Del; Del+Dup; Deletions; Document; Dp; Finding; Findings; Genetics; Heredity; Heritable; Inherited; L-alanine: glyoxylate aminotransferase 1; Molecular pathology; MOLPATH | |
Basic Attributes | ||
| class | MOLPATH.MUT | |
| type | 1 Laboratory | |
| order vs. observation | AGXT gene Del+D | |
History/Usage | ||
| first released | ||
| last updated | 2.66 | |
| last change type | MAJ - change to name field other than Component; | |
Related Names | ||
| ||
Copyright © 2026 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2026, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.
Thank you for choosing Find-A-Code, please Sign In to remove ads.
Quick, Current, Complete - www.findacode.com