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Part Description

LP33199-8   HNPCC genes
Lynch syndrome (HNPCC or Hereditary nonpolyposis colorectal cancer ) is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. The increased risk for these cancers is due to inherited mutations that impair DNA mismatch repair.

HNPCC defects in DNA mismatch repair lead to microsatellite instability, also known as MSI-H, which is a hallmark of HNPCC. MSI is identifiable in cancer specimens in the pathology laboratory. Most cases result in changes in the lengths of dinucleotide repeats of the nucleobases cytosine and adenine (sequence: CACACACACA...).

HNPCC is known to be associated with mutations in genes involved in the DNA mismatch repair pathway:
MSH2
MLH1
MSH6
PMS2
PMS1
TGFBR2
MLH3 Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

LOINC Names Get Info

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

Part Model Get Info

  • Component
    HNPCC genes mutations
    LP451968-4
    • Analyte
      HNPCC genes mutations
      LP451968-4
      • Component Numerator
        HNPCC genes mutations
        LP451968-4
      • 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 2.13
Last Updated
Version 2.83 (NAM)
Change Reason
Changed "gene" to "genes" in Component since multiple genes to clarify that "HNPCC" is the disease acrynoym and not an approved HGNC gene name. This change also clarifies that multiple genes are being analyzed. 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
14276

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Geny HNPCC cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδια κληρονομικού μη-πολυποδικού ορθοκολικού καρκίνου στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδια κληρονομικού μη-πολυποδικού ορθοκολικού καρκίνου Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ARSpanish (Argentina)gen HNPCC:presencia o identidad:punto en el tiempo:tejido, no especificado:Nominal:
es-ESSpanish (Spain)Gen HNPCC Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas a genes HNPCC:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)HNPCC gènes mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)HNPCC, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene HNPCC Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)HNPCC 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)HNPCC-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: HNPCC gen molgen targeted
pl-PLPolish (Poland)HNPCC geny ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genów związanych z dziedzicznym rakiem jelita grubego niezwiązanym z polipowatością;Analiza mutacji genów związanych z zespołem Lyncha diagnostyka molekularna Geny HNPCC;Geny dziedzicznego raka jelita grubego niezwiązanego z polipowatością;Geny zespołu Lyncha wynik kategorialny
pt-BRPortuguese (Brazil)HNPCC análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Hereditary Nonpolyposis Colorectal Cancer; 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)HNPCC 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)HNPCC geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)HNPCC 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: HNPCC;遗传性非多发性息肉型结直肠癌;遗传性非多发性息肉型结直肠癌（Hereditary Nonpolyposis Colorectal Cancer，HNPCC）;遗传性非多发性息肉性结直肠癌;遗传性非息肉性大肠癌;遗传性非息肉病型结直肠癌;遗传性非息肉病性大肠癌;遗传性非息肉病性结直肠癌;遗传性非瘜肉症大肠直肠癌 全血或组织;血液/组织;血液或组织 分子病理学 - 基因类 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 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

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