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Term Description

VKORC1 gene mutation analysis represents testing for multiple mutations in the VKORC1 gene that are associated with coumarin (Warfarin) resistance see [OMIM:122700].

Part Description

LP65679-0   VKORC1 gene
The VKORC1 gene (vitamin K epoxide reductase complex, subunit 1) [HGNC Gene ID:23663] is located on chromosome 16p11.2. Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] [NCBI Gene ID:79001] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
VKORC1 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
VKORC1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
VKORC1 gene Mut Anl Bld/T
Display Name
VKORC1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
VKORC1 gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    VKORC1 gene targeted mutation analysis
    LP229926-3
    • Analyte
      VKORC1 gene targeted mutation analysis
      LP229926-3
      • Component Numerator
        VKORC1 gene targeted mutation analysis
        LP229926-3
        • Component Numerator Core
          VKORC1 gene
          LP65679-0
        • Component Numerator Core Suffix
          targeted mutation analysis
          LP32419-1
      • 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.PHARMG
Type
Laboratory
First Released
Version 2.42
Last Updated
Version 2.67 (MIN)
Change Reason
Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; Previous Releases: 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.; 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 VKORC1 cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο VKORC1 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.PHARMG Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο VKORC1 Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen VKORC1 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen VKORC1:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)VKORC1 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)VKORC1, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Farmacogenomica Gene VKORC1 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)VKORC1-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen targeted VKORC1 gen
pl-PLPolish (Poland)VKORC1 gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza mutacji genu VKORC1 diagnostyka molekularna Gen VKORC1
pt-BRPortuguese (Brazil)VKORC1 gene análise de mutação:Ident:Pt:Sg/Tecido:Nar:Genética molecular
ru-RURussian (Russian Federation)VKORC1 ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)VKORC1 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)VKORC1 基因 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: VKCFD2;VKOR;维生素 K 环氧化物还原酶复合体（Vitamin K epoxide reductase complex, subunit 1，VKORC1）;维生素 K 环氧化物还原酶复合体, 亚单位 1;维生素 K 环氧化物还原酶复合体, 亚基 1;维生素 K 环氧化物还原酶复合物, 亚单位 1;维生素 K 环氧化物还原酶复合物, 亚基 1 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;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 基因突变分析 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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