Version 2.80

Part Description

LP33138-6   MEN1 gene
The MEN1 gene (multiple endocrine neoplasia I) [HGNC Gene ID:7010] is located on chromosome 11q13. This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008] [NCBI Gene ID:4221] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
MEN1 gene targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Long Common Name
MEN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
MEN1 gene Mut Anl Bld/T
Display Name
MEN1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
MEN1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.13
Last Updated
Version 2.73 (MIN)
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
19662

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο MEN1 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Γονίδιο Γονίδιο MEN1 Εύρεση
es-ES Spanish (Spain) Gen Men 1 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-AR Spanish (Argentina) gen MEN1:presencia o identidad:punto en el tiempo:tejido, no especificado:Narrativo:genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen MEN1:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) MEN1 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) MEN1, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene MEN1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) MEN1 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL Dutch (Netherlands) MEN1-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: MEN1 gen molgen targeted
pt-BR Portuguese (Brazil) MEN1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: MEAI; SCG2; Wermer syndrome; Zollinger-Ellison syndrome; Multiple endocrine neoplasia type I; Menin; 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) MEN1 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) MEN1 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) ME1 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: MEAI;Menin;Menin（一种肿瘤抑制蛋白质, 或者说抑癌蛋白）;Overlapping syndrome;SCG2;Wermer 综合征;Zollinger-Ellison 综合征;卓-艾综合征;卓-艾综合征（主要表现为顽固性消化性溃疡及慢性腹泻）;多内分泌瘤病 1 型;多发性内分泌肿瘤 I 型;多发性内分泌肿瘤 I 型肿瘤抑制蛋白 Menin;多发性内分泌肿瘤Ⅰ型肿瘤抑制蛋白 Menin;多发性内分泌肿瘤形成 I 型;多发性内分泌腺瘤 I 型;多发性内分泌腺瘤Ⅰ型;重叠综合征 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=35288-0