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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

LOINC Names Get Info

Fully-Specified Name
AGXT gene deletion+duplication:Find:Pt:Bld/Tiss:Doc:MLPA
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

Part Model Get Info

  • Component
    AGXT gene deletion+duplication
    LP227561-0
    • Analyte
      AGXT gene deletion+duplication
      LP227561-0
      • Component Numerator
        AGXT gene deletion+duplication
        LP227561-0
        • Component Numerator Core
          AGXT gene
          LP136154-4
        • Component Numerator Core Suffix
          deletion+duplication
          LP136317-7
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    MLPA
    LP147267-1

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

TagLanguageTranslation
cs-CZCzech (Czechia)Gen AGXT delece+duplikace:Nález:Časový bod:Krev/tkáň:Dokument:Multiplexní na ligaci závislá PCR reakce (MPLA)
el-GRGreek (Greece)Γονίδιο AGXT διαγραφή+διπλασιασμός:Εύρεση:Pt:Αίμα/Ιστός:Doc:MLPA
Synonyms: Doc MLPA MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο AGXT διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Εύρεση Ιστός
es-ESSpanish (Spain)Gen AGXT Delección+duplicación:Hallazgo:Punto temporal:Sangre o tejido:Doc:MLPA
es-MXSpanish (Mexico)Deleción + duplicación del gen AGXT:Hallazgo:Punto temporal:Sangre o tejido:Documento:MLPA
fr-FRFrench (France)AGXT gène délétion+duplication:Recherche:Ponctuel:Sang/Tissu:Document:MLPA
it-ITItalian (Italy)AGXT, gene Delezione+duplicazione:Osservazione:Pt:Sangue/Tess:Doc:MLPA
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 & Strisci
pl-PLPolish (Poland)AGXT gen delecja+duplikacja:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:MLPA
Synonyms: Gen AGXT
tr-TRTurkish (Turkey)AGXT geni delesyon+duplikasyon:Bulgu:Zmlı:Kan/Dk:Dokm:MLPA
Synonyms: çiftleme
zh-CNChinese (China)AGXT 基因 缺失+重复:发现:时间点:全血/组织:文档型:多重连接探针扩增技术
Synonyms: AGXT;血管紧张素原基因;angiotensinogen gene multiplex ligation-dependent probe amplification;MLPA;多重连接探针扩增;多重连接酶依赖的探针扩增技术;多重连接依赖型探针扩增技术 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因复制;基因重复;重复 基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=69478-6