Version 2.77

46724-1 CYP2C9 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal

Term Description

The patient's allelic genotype (e.g. *1/*8) for the CYP2C9 gene allele. Testing may include the most common alleles of CYP2C9, such as *2, *6,*8,*11,*13,*15. The example answers provided with this code are a small representative of the CYP2C9 allelic genotypes. For a complete list of CYP2C9 alleles, see the The Human Cytochrome P450 (CYP) Allele Nomenclature Database (http://www.cypalleles.ki.se).
Source: Regenstrief LOINC

Part Descriptions

LP417568-5   CYP2C9 gene allele
Cytochrome P450-2C9 (CYP2C9; [HGNC Gene ID: 2623]), a member of the cytochrome P450 mixed-function oxidase system, is involved in the metabolism 10-15% of drugs in current clinical use. Genetic variations in CYP2C9 can affect the response (i.e., efficacy or toxicity) to drugs metabolized by CYP2C9 and selection of alternative dosing or agents may be necessary in individuals with specific CYP2C9 genetic variations. PMID: 25099164 PMID: 21900891 See https://www.pharmgkb.org/gene/PA126 for more information and dosing guidelines for drugs impacted by CYP2C9 genetic variation. Source: Clinical Pharmacogenetics Implementation Consortium

Fully-Specified Name

Component
CYP2C9 gene allele
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
CYP2C9 allele Geno Bld/T
Display Name
CYP2C9 gene allele genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
CYP2C9 gene allele genotype, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.19
Last Updated
Version 2.73
Change Reason
Release 2.68: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; COMPONENT: Updated Component to align with the LOINC term naming model for concepts used to report allelic genotypes (e.g. CYP2C9*1/*8), which was the original intent for this term.; 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
9570

Example Answer List LL5510-4

Answer Code Score Answer ID
CYP2C9 *1/*2 LA30670-6
CYP2C9 *1/*6 LA30671-4
CYP2C9 *6/*11 LA30672-2

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: CYP2C9 Genotyp.
es-ES Spanish (Spain) Alelo del gen CYP2C9:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Alelo del gen CYP2C9:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) CYP2C9 gène allèle:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CYP2C9, gene allele:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Gene CYP2C9 Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) CYP2C9-allel:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: CYP2C9 gen molgen
pt-BR Portuguese (Brazil) CYP2C9 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Cytochrome P450 2C9 Genotyping; CPC9; CYP2C; CYP2C10; CYPIIC9; 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
zh-CN Chinese (China) CYP2C9 基因等位基因:基因型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: CPC9;CYP2C;CYP2C10;CYPIIC9;细胞色素 P450 2C9 基因分型;细胞色素 P450 2C9 基因型分析;细胞色素 P450 2C9 基因型鉴定 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 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

79716-7 CYP2C9 gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method

Term Description

The CYP2C9 gene product metabolic activity interpretation is determined by the reporting lab and returned with the structured test results. The Preferred Answer list associated with this term is based on the Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for reporting CYP2C9 gene product metabolic activity (phenotype), which apply to both genetic and enzymatic assays (this LOINC term represents a genetic assay). This specific interpretation would be considered a separate observation made by the lab in addition to the primary reported results (e.g., genotype or measured activity level) and it could be included with other assay-specific observations, which would ideally support the interpretation value. [https://cpicpgx.org/resources.html]
Source: Regenstrief LOINC

Part Descriptions

LP202920-7   CYP2C9 gene product metabolic activity interpretation
Cytochrome P450-2C9 (CYP2C9; [HGNC Gene ID: 2623]), a member of the cytochrome P450 mixed-function oxidase system, is involved in the metabolism 10-15% of drugs in current clinical use. Genetic variations in CYP2C9 can affect the response (i.e., efficacy or toxicity) to drugs metabolized by CYP2C9 and selection of alternative dosing or agents may be necessary in individuals with specific CYP2C9 genetic variations. PMID: 25099164 PMID: 21900891 See https://www.pharmgkb.org/gene/PA126 for more information and dosing guidelines for drugs impacted by CYP2C9 genetic variation. Source: Clinical Pharmacogenetics Implementation Consortium

Fully-Specified Name

Component
CYP2C9 gene product metabolic activity interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
CYP2C9 gene prod met act imp Bld/T-Imp
Display Name
CYP2C9 gene product metabolic activity interpretation Molgen Ql (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
CYP2C9 gene product metabolic activity interpretation, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
14021

Preferred Answer List LL3856-3

Answer Code Score Answer ID
Ultrarapid metabolizer LA10315-2
Rapid metabolizer LA25390-8
Normal metabolizer LA25391-6
Intermediate metabolizer LA10317-8
Poor metabolizer LA9657-3

Member of these Panels

LOINC Long Common Name
93196-4 Warfarin response genotype panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen CYP2C9 interpretation de la actividad en el metabolismo de fármacos:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Interpretación de la actividad metabólica del producto del gen CYP2C9:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) CYP2C9 gène activité métabolique interprétation:Interprétation:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) Interpretazione dell'attività metabolica del gene CYP2C9:Imp:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Farmacogenomica Gene CYP2C9 Genetica molecolare Impressione/interpretazione di studio Interpretazione dell''attività metabolica del gene Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) CYP2C9-gen product metabole activiteit interpretatie:interpretatie:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: CYP2C9 gen CYP2C9 gen product metabole activiteit interpretatie molgen
tr-TR Turkish (Turkey) CYP2C9 geni ürünü metabolik aktivite yorumu:İzlnm:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) CYP2C9 基因产物新陈代谢活性解释:印象:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: CPC9;CYP2C;CYP2C10;CYPIIC9;细胞色素 P450 2C9 基因分型;细胞色素 P450 2C9 基因型分析;细胞色素 P450 2C9 基因型鉴定 CYP2C9 基因产物新陈代谢（代谢）活性解释（说明、阐释、诠释、解释说明） 代谢作用;新陈代谢 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 基因产物新陈代谢（代谢）活性解释（说明、阐释、诠释、解释说明） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 活动 血;血液 遗传基因;遗传因子;吉恩;生物基因

50722-8 VKORC1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

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 Descriptions

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

72507-7 VKORC1 gene c.1173C>T [Presence] in Blood or Tissue by Molecular genetics method

Term Description

The 1173C>T (rs9934438) is a single nucleotide polymorphism (SNP) within the VKORC1 gene associated with an increased risk of aortic calcification PMID: 18218987 and warfarin (coumarin) sensitivity PMID: 19955245.
Source: Regenstrief LOINC

Fully-Specified Name

Component
VKORC1 gene.c.1173C>T
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
VKORC1 c.1173C>T Bld/T Ql
Display Name
VKORC1 gene c.1173C>T Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
VKORC1 gene c.1173C>T, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.42
Last Updated
Version 2.67
Change Reason
Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; Previous Releases: The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both

Example Answer List LL2014-0

Answer Code Score Answer ID
Wild type LA9658-1
Heterozygous LA6706-1
Homozygous LA6705-3

Member of these Panels

LOINC Long Common Name
93196-4 Warfarin response genotype panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen VKORC1 c.1173C>T:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen VKORC1 c.1173C> T:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) VKORC1 gène mutation c.1173C>T:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) VKORC1, gene.c.1173C>T:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Farmacogenomica Gene VKORC1 Gene VKORC1 c.1173C>T Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) VKORC1-gen.c.1173C>T:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen VKORC1 gen
pt-BR Portuguese (Brazil) VKORC1 gene.c.1173C>T::Pt:Sg/Tecido:Ord:Genética molecular
ru-RU Russian (Russian Federation) VKORC1 ген.c.1173C>T:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) VKORC1 geni.c.1173C>T:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) VKORC1 基因.c.1173C>T:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 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 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 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

93198-0 10q23 g.94645745G>A [Genotype] in Blood or Tissue by Molecular genetics method Nominal

Term Description

The non-coding variant g.94645745G>A (rs12777823) located in the CYP2C cluster near the CYP2C18 gene on chromosome 10 is associated with warfarin dosing among African Americans (mainly originating from West Africa). For those with rs12777823 A/G or A/A genotypes, a warfarin dose reduction of 10-25% is recommended. PMID: 28198005
Source: Regenstrief LOINC

Fully-Specified Name

Component
10q23 g.94645745G>A
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
10q23 g.94645745G>A Geno Bld/T
Display Name
10q23 g.94645745G>A genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
10q23 g.94645745G>A genotype, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.68
Order vs. Observation
Observation

Preferred Answer List LL2478-7

Answer Code Score Answer ID
G/G (wild type) LA19932-5
G/A (heterozygous) LA19933-3
A/A (homozygous) LA19934-1

Member of these Panels

LOINC Long Common Name
93196-4 Warfarin response genotype panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) 10q23 g.94645745G> A:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) 10q23 g.94645745G> A:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) 10q23 mutation g.94645745G>A:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) 10q23 g.94645745G>A:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) 10q23 g.94645745G>A:基因型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: A 型 G 型 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 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

93197-2 CYP4F2 gene c.1297G>A [Genotype] in Blood or Tissue by Molecular genetics method Nominal

Term Description

The presence of the CYP4F2*3 (rs2108622) allele indicates that a patient who self-identifies as being of non-African ancestry may require a slightly increased warfarin dose than predicted by CYP2C9/VKORC1 alone. PMID: 18250228 The rs2108622 variant (c.1297G>A) results in an amino acid substitution (valine to methionine) at position 433 (p.V433M).
Source: Regenstrief LOINC

Fully-Specified Name

Component
CYP4F2 gene.c.1297G>A
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
CYP4F2 c.1297G>A Geno Bld/T
Display Name
CYP4F2 gene c.1297G>A genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
CYP4F2 gene c.1297G>A genotype, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.68
Order vs. Observation
Observation

Example Answer List LL5373-7

Answer Code Score Answer ID
CYP4F2 *1/*1 LA30244-0
CYP4F2 *1/*3 LA30245-7
CYP4F2 *3/*3 LA30246-5

Member of these Panels

LOINC Long Common Name
93196-4 Warfarin response genotype panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen CYP4F2 c.1297G> A:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Gen CYP4F2 c.1297G> A:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) CYP4F2 gène mutation c.1297G>A:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CYP4F2 gene.c.1297G>A:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) CYP4F2 基因.c.1297G>A:基因型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: A 型 C 型;丙;丙型 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 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

79721-7 CYP4F2 gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method

Term Description

The CYP4F2 gene product metabolic activity interpretation is determined by the reporting lab and returned with the structured test results. The Preferred Answer list associated with this term is based on the Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for reporting CYP4F2 gene product metabolic activity (phenotype), which apply to both genetic and enzymatic assays (this LOINC term represents a genetic assay). This specific interpretation would be considered a separate observation made by the lab in addition to the primary reported results (e.g., genotype or measured activity level) and it could be included with other assay-specific observations, which would ideally support the interpretation value. [https://cpicpgx.org/resources.html]
Source: Regenstrief LOINC

Part Descriptions

LP202924-9   CYP4F2 gene product metabolic activity interpretation
Cytochrome P450-4F2 (CYP4F2; [HGNC Gene ID: 2645]), a member of the cytochrome P450 mixed-function oxidase system, is involved in the metabolism of a number of clinically relevant substrates in current clinical use. Genetic variations in CYP4F2 can affect the response (i.e., efficacy or toxicity) to drugs and other compounds metabolized by CYP4F2 and selection of alternative dosing or agents may be necessary in individuals with specific CYP4F2 genetic variations. See https://www.pharmgkb.org/gene/PA27121 for more information. Source: Clinical Pharmacogenetics Implementation Consortium

Fully-Specified Name

Component
CYP4F2 gene product metabolic activity interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
CYP4F2 gene prod met activ imp Bld/T-Imp
Display Name
CYP4F2 gene product metabolic activity interpretation Molgen Ql (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
CYP4F2 gene product metabolic activity interpretation, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.67
Order vs. Observation
Observation

Preferred Answer List LL3856-3

Answer Code Score Answer ID
Ultrarapid metabolizer LA10315-2
Rapid metabolizer LA25390-8
Normal metabolizer LA25391-6
Intermediate metabolizer LA10317-8
Poor metabolizer LA9657-3

Member of these Panels

LOINC Long Common Name
93196-4 Warfarin response genotype panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen CYP4F2 interpretation de la actividad en el metabolismo de fármacos:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Interpretación de la actividad metabólica del producto del gen CYP4F2:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) CYP4F2 gène activité métabolique interprétation:Interprétation:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) Interpretazione dell'attività metabolica del gene CYP4F2:Imp:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Farmacogenomica Genetica molecolare Impressione/interpretazione di studio Interpretazione dell''attività metabolica del gene Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) CYP4F2-gen product metabole activiteit interpretatie:interpretatie:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: CYP4F2 gen product metabole activiteit interpretatie molgen
tr-TR Turkish (Turkey) CYP4F2 geni ürünü metabolik aktivite yorumu:İzlnm:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) CYP4F2 基因产物新陈代谢活性解释:印象:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: CYP4F2 基因产物新陈代谢（代谢）活性解释（说明、阐释、诠释、解释说明） 代谢作用;新陈代谢 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 基因产物新陈代谢（代谢）活性解释（说明、阐释、诠释、解释说明） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 活动 血;血液 遗传基因;遗传因子;吉恩;生物基因