Version 2.78

Part Description

LP30740-2   MSH2 gene+MLH1 gene
Mutations in the MLH1, MSH2, MSH6, and PMS2 genes, which are involved in DNA mismatch repair, are associated with hereditary nonpolyposis colorectal cancer (HNPCC), an autosomal dominant cancer syndrome that confers an elevated risk of early-onset colorectal cancer (CRC). Patients with HNPCC also have an increased lifetime risk for other cancers of the endometrium, stomach, small intestine, hepatobiliary system, kidney, ureter, and ovary. HNPCC is most often associated with mutations in the MLH1 and MSH2 genes. PMID: 19360696 Source: Regenstrief LOINC, PMID:19360696

Fully-Specified Name

Component
MSH2 gene+MLH1 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
MSH2+MLH1 gene Mut Anl Bld/T
Display Name
MSH2 gene+MLH1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
MSH2 gene+MLH1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.09
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
10123

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) análisis de mutación del gen MSH2+MLH1:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES Spanish (Spain) Gen MSH2 + Gen MLH1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutación dirigida al gen MSH2 + gen MLH1:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) MSH2+MLH1 gènes mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) MSH2, gene+gene MSH1 analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene MLH1 Gene MSH2 Gene MSH2+gene MSH1 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) MSH2 유전자+MLH1 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) MSH2-gen + MLH1-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: MLH1 gen molgen MSH2 gen MSH2 gen+MLH1 gen targeted
pt-BR Portuguese (Brazil) MSH2 gene+MLH1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; MSH2+MLH1 gene; Colon cancer nonpolyposis type 1; HNPCC; BAT-26; COCA1; FCC1; HNPCC1; MutL homolog 1, colon cancer, nonpolyposis type 2; COCA2; FCC2; HNPCC2; MGC5172; hMLH1; 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) MSH2 ген+MLH1 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) MSH2 geni+MLH1 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) MSH2 基因+MLH1 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: BAT-26;COCA1;FCC1;HNPCC;HNPCC1;结肠癌, 非多发性息肉 1 型;结肠癌, 非息肉病 1 型 COCA2;FCC2;hMLH1;HNPCC;HNPCC2;MGC5172;MutL 同源基因 1, 结肠癌, 非多发性息肉 2 型;MutL 同源基因 1, 结肠癌, 非息肉病 2 型 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 错配修复蛋白-2;错配修复蛋白2;DNA mismatch repair protein;MSH2;MutS homologue 2;COCA2;FCC2;hMLH1;HNPCC;HNPCC2;MGC5172;MutL 同源基因 1, 结肠癌, 非多发性息肉 2 型;MutL 同源基因 1, 结肠癌, 非息肉病 2 型

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