Log In

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

LOINC Names Get Info

Fully-Specified Name
MSH2 gene+MLH1 gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
MSH2 gene+MLH1 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
MSH2+MLH1 gene Mut Bld/T Mut Anl
Display Name
MSH2 gene+MLH1 gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
MSH2 gene+MLH1 gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    MSH2 gene+MLH1 gene mutations
    LP451948-6
    • Analyte
      MSH2 gene+MLH1 gene mutations
      LP451948-6
      • Component Numerator
        MSH2 gene+MLH1 gene mutations
        LP451948-6
        • Component Numerator Core
          MSH2 gene+MLH1 gene
          LP30740-2
        • Component Numerator Core Suffix
          mutations
          LP452208-4
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.09
Last Updated
Version 2.83 (NAM)
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

TagLanguageTranslation
cs-CZCzech (Czechia)Gen MSH2+MLH1 cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο MSH2+γονίδιο MLH1 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο MLH1 Γονίδιο MSH2 Γονίδιο MSH2+γονίδιο MLH1 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ARSpanish (Argentina)análisis de mutación del gen MSH2+MLH1:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ESSpanish (Spain)Gen MSH2 + Gen MLH1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Análisis de mutación dirigida al gen MSH2 + gen MLH1:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)MSH2+MLH1 gènes mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (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-KRKorean (Korea, Republic Of)MSH2 유전자+MLH1 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (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
pl-PLPolish (Poland)MSH2 gen+MLH1 gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genów MSH2 i MLH1 Analiza mutacji genu MLH1 diagnostyka molekularna Gen MLH1 Gen MSH2 Geny MSH2 i MLH1 wynik kategorialny
pt-BRPortuguese (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-RURussian (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-TRTurkish (Turkey)MSH2 geni+MLH1 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=32630-6