Version 2.78

Part Description

LP31870-6   UGT1A1 gene
The UGT1A1 gene (UDP glucuronosyltransferase 1 family, polypeptide A1) [HGNC Gene ID:12530] is located on chromosome 2q37. This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008] [NCBI Gene ID:54658] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
UGT1A1 gene targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Long Common Name
UGT1A1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
UGT1A1 gene Mut Anl Bld/T
Display Name
UGT1A1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
UGT1A1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.10
Last Updated
Version 2.73
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; 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
Common Test Rank Get Info
12982

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) análisis de mutación genética en el síndrome de Gilbert:presencia o identidad:punto en el tiempo:sangre entera/tejido:Narrativo:genética molecular
es-ES Spanish (Spain) Gen UGT1A1 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutación dirigida al gen UGT1A1:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) UGT1A1 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) UGT1A1, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene UGT1A1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) UGT1A1 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL Dutch (Netherlands) UGT1A1-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen targeted UGT1A1 gen
pt-BR Portuguese (Brazil) UGT1A1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: Gilbert Syndrome; UDP glycosyltransferase 1 family, polypeptide A1 gene; GNT1; UGT1; UGT1A; UGT1A5; Crigler-Najjar syndrome, type I; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) UGT1A1 ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) UGT1A1 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) UGT1A1 基因 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: Crigler-Najjar 综合征, I 型;Gilbert 综合征;Gilbert 综合征（一种遗传性结合型胆红素水平升高造成胆红素排泄障碍,而肝脏功能正常的综合征,是人类最为常见的综合征类型之一）;GNT1;UDP 糖基转移酶 1 家族, 多肽 A1 基因;UDP 转糖基酶 1 家族, 多肽 A1 基因;UGT1;UGT1A;UGT1A5;二磷酸尿苷糖基转移酶 1 家族, 多肽 A1 基因;二磷酸尿苷转糖基酶 1 家族, 多肽 A1 基因;尿苷二磷酸糖基转移酶 1 家族, 多肽 A1 基因;尿苷二磷 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 基因突变分析 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=34509-0