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Term Description

This term is used for carrier or diagnostic testing for at-risk or presymptomatic relatives of an affected individual who has a previously identified known genetic mutation within the MLH1, MSH2 or MSH6 genes. Mutations in these genes cause hereditary nonpolyposis colorectal cancer (HNPCC). Mutation analysis only includes testing for the known familial mutation.

Part Description

LP97953-1   MSH2 gene+MLH1 gene+MSH6 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+MSH6 gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
MSH2 gene+MLH1 gene+MSH6 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
Short Name
MSH2+MLH1+MSH6 gene Fam Mut Anl Bld/T
Display Name
MSH2 gene+MLH1 gene+MSH6 gene familial mut analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
MSH2 gene+MLH1 gene+MSH6 gene familial variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    MSH2 gene+MLH1 gene+MSH6 gene mutation analysis limited to known familial mutations
    LP229047-8
    • Analyte
      MSH2 gene+MLH1 gene+MSH6 gene mutation analysis limited to known familial mutations
      LP229047-8
      • Component Numerator
        MSH2 gene+MLH1 gene+MSH6 gene mutation analysis limited to known familial mutations
        LP229047-8
        • Component Numerator Core
          MSH2 gene+MLH1 gene+MSH6 gene
          LP97953-1
        • Component Numerator Core Suffix
          mutation analysis limited to known familial mutations
          LP135775-7
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.66 (MAJ)
Change Reason
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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen MSH2+MLH1+MSH6 mutační analýza omezená na známé familiární mutace:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο MSH2+γονίδιο MLH1+γονίδιο MSH6 ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις Γονίδιο Γονίδιο MLH1 Γονίδιο MSH2 Γονίδιο MSH2+γονίδιο MLH1 Γονίδιο MSH2+γονίδιο MLH1+γονίδιο MSH6 Γονίδιο MSH6 Εύρεση Ιστός Μεταλλάξεις Μοριακή γενετική
es-ESSpanish (Spain)Gen MSH2+gen MLH1+ gen MSH6 Análisis de mutaciones limitado al conocimiento de las mutaciones familiares:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Gen MSH2 + gen MLH1 + análisis de mutación del gen MSH6 limitado a mutaciones familiares conocidas:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)MSH2 gène+MLH1 gène+MSH6 gène mutation recherche limitée aux mutations familiales connues:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)MSH2, gene+gene MLH1+gene MSH6, analisi di mutazione limitata a mutazioni familiari note:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene MLH1 Gene MSH2 Gene MSH2+gene MLH1+gene MSH6 Gene MSH2+gene MSH1 Gene MSH6 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)MSH2-gen + MLH1-gen + MSH6-gen mutatieanalyse gelimiteerd tot bekende familiaire mutaties:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: MLH1 gen molgen MSH2 gen MSH2 gen+MLH1 gen MSH2 gen+MLH1 gen+MSH6 gen MSH6 gen
pl-PLPolish (Poland)MSH2 gen+MLH1 gen+MSH6 gen analiza mutacji ograniczona do znanych rodzinnie występujących mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna Gen MLH1 Gen MSH2 Gen MSH6 Geny MSH2 i MLH1 Geny MSH2, MLH1 i MSH6
ru-RURussian (Russian Federation)MSH2 ген+MLH1 ген+MSH6 ген исследование на мутацию, ограниченный известными семейными мутациями:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)MSH2 geni+MLH1 geni+MSH6 geni mutasyon analizi, bilinen ailesel mutasyonlarla sınırlandırılmış:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)MSH2 基因+MLH1 基因+MSH6 基因 局限于已知家族性突变的突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: 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 G/T 错配-结合蛋白（G/T mismatch-binding protein，GTBP）;G/T 错配-结合蛋白基因;GTBP;HNPCC5 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 受限 受限的 局部的 局限于已知家族性突变的基因突变分析;仅限于已知家族性突变的突变分析 时刻;随机;随意;瞬间 有界的 有限 有限的 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 血;血液 被限制的 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 错配修复蛋白-2;错配修复蛋白2;错配修复蛋白-6;错配修复蛋白6;DNA mismatch repair protein;MSH6;MutS homologue 6;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 限制的

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