41089-4

MEN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

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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: Prid
Time: Pt
System: Bld/Tiss
Scale: Nom
Method: Molgen

Additional Names

Long Common Name: MEN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name: MEN1 gene Mut Anl Bld/T
Display Name: MEN1 gene targeted mutation analysis Molgen Nom (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 2.15
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.
Order vs. Observation: Both
Common Test Rank Get Info: 16711

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Gen Men 1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen MEN1:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	MEN1 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	MEN1, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene MEN1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	MEN1 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	MEN1-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: MEN1 gen molgen targeted
pt-BR	Portuguese (Brazil)	MEN1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom: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; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	MEN1 ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	MEN1 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	ME1 基因突变分析:存在与否或特征标识:时间点:全血/组织:名义型: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;聚合酶链式反应分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答基因突变分析存在;存在与否;特征标识;身份;身份标识时刻;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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