Version 2.80

Term Description

This term is used for carrier, diagnostic, or prenatal testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the AGXT gene. Mutation analysis only includes testing for the known familial mutation(s).

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 mutation analysis limited to known familial mutations
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Long Common Name
AGXT gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
Short Name
AGXT gene Fam Mut Anl Bld/T
Display Name
AGXT gene familial mut analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
AGXT gene familial variant 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 ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Γονίδιο Γονίδιο AGXT Εύρεση Μεταλλάξεις
es-ES Spanish (Spain) Gen AGXT Análisis de mutaciones limitado al conocimiento de las mutaciones familiares:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutación del gen AGXT limitado a mutaciones familiares conocidas:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) AGXT gène mutation recherche limitée aux mutations familiales connues:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) AGXT, gene, analisi di mutazione limitata a mutazioni familiari note:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene AGXT Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) AGXT-gen mutatieanalyse gelimiteerd tot bekende familiaire mutaties:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: AGXT gen molgen
ru-RU Russian (Russian Federation) AGXT ген исследование на мутацию, ограниченный известными семейными мутациями:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) AGXT geni mutasyon analizi, bilinen ailesel mutasyonlarla sınırlandırılmış:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) AGXT 基因 局限于已知家族性突变的突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: AGXT;血管紧张素原基因;angiotensinogen gene 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 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 受限 受限的 局部的 局限于已知家族性突变的基因突变分析;仅限于已知家族性突变的突变分析 时刻;随机;随意;瞬间 有界的 有限 有限的 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 血;血液 被限制的 遗传基因;遗传因子;吉恩;生物基因 限制的

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