69478-6
AGXT gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
Active
Term 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.
Part Descriptions
LP136154-4 AGXT gene
The AGXT (alanine-glyoxylate aminotransferase) gene provides instructions for making a liver-specific peroxisomal enzyme, alanine-glyoxylate aminotransferase (AGT). Mutations in the AGXT gene lead to deficient AGT enzyme activity and ultimately primary hyperoxaluira type 1 (PH1), an autosomal recessive disorder in which excessive oxalates are formed by the liver and excreted by the kidneys. Clinical symptoms included increased urinary oxalate, glycolate, and glycerate excreation, which lead to a wide spectrum of diseases ranging from renal failure in infancy to renal stones in late adulthood.
Source: Regenstrief LOINC
LP136154-4 AGXT gene
The AGXT gene (alanine-glyoxylate aminotransferase) [HGNC Gene ID:341] is located on chromosome 2q37.3. This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008] [NCBI Gene ID:189]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- AGXT gene deletion+duplication
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- MLPA
Additional Names
- Long Common Name
- AGXT gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
- Short Name
- AGXT gene Del+Dup Bld/T MLPA
- Display Name
- AGXT gene del and dup mutation analysis MLPA Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- AGXT gene deletion/duplication analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.40
- Last Updated
- Version 2.66 (MAJ)
- Change Reason
- Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
el-GR | Greek (Greece) | Γονίδιο AGXT διαγραφή+διπλασιασμός: Synonyms: Γονίδιο Γονίδιο AGXT Εύρεση |
es-ES | Spanish (Spain) | Gen AGXT Delección+duplicación: |
es-MX | Spanish (Mexico) | Deleción + duplicación del gen AGXT: |
fr-FR | French (France) | AGXT gène délétion+duplication: |
it-IT | Italian (Italy) | AGXT, gene Delezione+duplicazione: Synonyms: Amplificazione legatura-dipendente multipla della delezione e duplicazione Gene AGXT Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
tr-TR | Turkish (Turkey) | AGXT geni delesyon+duplikasyon: |
zh-CN | Chinese (China) | AGXT 基因 缺失+重复: Synonyms: AGXT; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=69478-6
LOINC Copyright
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