Version 2.78

Term Description

The presence of the heterozygous missense mutation -1639 G>A in the VKORC1 gene can result in warfarin resistance. VKORC1 DNA analysis is performed by PCR followed by restriction enzyme digestion to detect -1639 G>A.
Source: Regenstrief LOINC

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

Fully-Specified Name

Component
VKORC1 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
VKORC1 gene Mut Anl Bld/T
Display Name
VKORC1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
VKORC1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.22
Last Updated
Version 2.73
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.
Order vs. Observation
Both
Common Test Rank Get Info
13213

Member of these Panels

LOINC Long Common Name
54450-2 CYP2C9 and VKORC1 panel - Blood or Tissue by Molecular genetics method
93196-4 Warfarin response genotype panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: VKORC1 Genotyp.
es-ES Spanish (Spain) Gen VKORC1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen VKORC1:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) VKORC1 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) VKORC1, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Gene VKORC1 Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) VKORC1-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted VKORC1 gen
pt-BR Portuguese (Brazil) VKORC1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Vitamin K epoxide reductase complex, subunit 1; VKOR; VKCFD2; 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) VKORC1 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) VKORC1 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) VKORC1 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: 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 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 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

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