Version 2.78

40425-1 CYP2D6 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal

Term Description

The patient's CYP2D6 allelic genotype (e.g. *1/*2A) based on analysis of multiple variants (e.g. *2,*2A,*3-*12,*14,*15,*17,*19, etc.) as well as gene deletions, duplications and rearrangements within the CYP2D6 gene. The example answers provided with this code are a small representative of the CYP2D6 allelic genotypes. For a complete list of CYP2D6 alleles, see the The Human Cytochrome P450 (CYP) Allele Nomenclature Database (http://www.cypalleles.ki.se).
Source: Regenstrief LOINC

Part Descriptions

LP417569-3   CYP2D6 gene allele
Cytochrome P450-2D6 (CYP2D6;[HGNC Gene ID: 2625]), a member of the cytochrome P450 mixed-function oxidase system, is involved in the metabolism approximately 25% of drugs in current clinical use. Genetic variations in CYP2D6 can affect the response (i.e., efficacy or toxicity) to drugs metabolized by CYP2D6 and selection of alternative dosing or agents may be necessary in individuals with specific CYP2D6 genetic variations. PMID: 23486447 PMID: 24458010 PMID: 25974703. See https://www.pharmgkb.org/gene/PA128 for more information and dosing guidelines for drugs impacted by CYP2D6 genetic variation. Source: Clinical Pharmacogenetics Implementation Consortium

Fully-Specified Name

Component
CYP2D6 gene allele
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Panel Name
Short Name
CYP2D6 allele Geno Bld/T
Display Name
CYP2D6 gene allele genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
CYP2D6 gene allele genotype, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.73
Change Reason
Release 2.68: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; SYSTEM: Updated System from "Bld/Tiss/Sal" to "Bld/Tiss" since this System in LOINC encompasses all specimens used for germline nucleic acid testing, including blood, tissue and cells contained in swabs as well as fluids such as saliva.; COMPONENT: Updated Component to align with the LOINC term naming model for concepts used to report allelic genotypes (e.g. CYP2D6*1/*1), which was the original intent for this term.; Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; SYSTEM: Updated System from "Bld/Tiss/Sal" to "Bld/Tiss" since this System in LOINC encompasses all specimens used for germline nucleic acid testing, including blood, tissue and cells contained in swabs as well as fluids such as saliva.; Previous Releases: Added specimen of saliva since Cytochrome P450 gene testing is commonly done on saliva as well as blood specimens and results are theoretically the same for both.; 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
9273

Example Answer List LL5517-9

Answer Code Score Answer ID
CYP2D6*1A/*4X2 LA30687-0
CYP2D6*1A/*1B LA30688-8
CYP2D6*1A/*1C LA30689-6
CYP2D6*1C/*6B LA30690-4

Member of these Panels

LOINC Long Common Name
72886-5 CYP2D6 gene and CYP2C19 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Alelo del gen CYP2D6:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Alelo del gen CYP2D6:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) CYP2D6 gène allèle:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CYP2D6, gene allele:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Gene CYP2D6 Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) CYP2D6 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) CYP2D6-allel:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: CYP2D6 gen molgen
pt-BR Portuguese (Brazil) CYP2D6 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Cytochrome p450; Debrisoquine hydroxylation gene; CPD6; CYP2D; CYP2D@; HGNC:2629; P450-DB1; P450C2D; 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) CYP2D6 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: CPD6;CYP2D;CYP2D@;HGNC:2629;P450C2D;P450-DB1;异位喹胍羟基化基因;异喹胍羟化代谢基因;异喹胍羟基化基因;细胞色素 P450 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

79715-9 CYP2D6 gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method

Term Description

The CYP2D6 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 CYP2D6 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

LP202919-9   CYP2D6 gene product metabolic activity interpretation
Cytochrome P450-2D6 (CYP2D6;[HGNC Gene ID: 2625]), a member of the cytochrome P450 mixed-function oxidase system, is involved in the metabolism approximately 25% of drugs in current clinical use. Genetic variations in CYP2D6 can affect the response (i.e., efficacy or toxicity) to drugs metabolized by CYP2D6 and selection of alternative dosing or agents may be necessary in individuals with specific CYP2D6 genetic variations. PMID: 23486447 PMID: 24458010 PMID: 25974703. See https://www.pharmgkb.org/gene/PA128 for more information and dosing guidelines for drugs impacted by CYP2D6 genetic variation. Source: Clinical Pharmacogenetics Implementation Consortium

Fully-Specified Name

Component
CYP2D6 gene product metabolic activity interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Panel Name
Short Name
CYP2D6 gene prod met act imp Bld/T-Imp
Display Name
CYP2D6 gene product metabolic activity interpretation Molgen Ql (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
CYP2D6 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
13971

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
72886-5 CYP2D6 gene and CYP2C19 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación de la actividad metabólica del producto del gen CYP2D6:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
es-ES Spanish (Spain) Gen CYP2D6 interpretation de la actividad en el metabolismo de fármacos:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Ord:Genética molecular
fr-FR French (France) CYP2D6 gène activité métabolique interprétation:Interprétation:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) Interpretazione dell'attività metabolica del gene CYP2D6:Imp:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Farmacogenomica Gene CYP2D6 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) CYP2D6-gen product metabole activiteit interpretatie:interpretatie:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: CYP2D6 gen CYP2D6 gen product metabole activiteit interpretatie molgen
tr-TR Turkish (Turkey) CYP2D6 geni ürünü metabolik aktivite yorumu:İzlnm:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) CYP2D6 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: CPD6;CYP2D;CYP2D@;HGNC:2629;P450C2D;P450-DB1;异位喹胍羟基化基因;异喹胍羟化代谢基因;异喹胍羟基化基因;细胞色素 P450 CYP2D6 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

57132-3 CYP2C19 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal

Term Description

A patient's allelic genotype (e.g. *1/*12) at the CYP2C19 gene locus to determine CYP2C19 enzyme activity. Genotype results may be used to determine a patient's drug dose adjustment.
Source: Regenstrief LOINC

Part Descriptions

LP417567-7   CYP2C19 gene allele
Cytochrome P450-2C19 (CYP2C19; [HGNC Gene ID: 2621]), 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 CYP2C19 can affect the response (i.e., efficacy or toxicity) to drugs metabolized by CYP2C19 and selection of alternative dosing or agents may be necessary in individuals with specific CYP2C19 genetic variations. PMID: 23486447 PMID: 23698643 PMID: 25974703 See https://www.pharmgkb.org/gene/PA124 for more information and dosing guidelines for drugs impacted by CYP2C19 genetic variation. Source: Clinical Pharmacogenetics Implementation Consortium

Fully-Specified Name

Component
CYP2C19 gene allele
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Panel Name
Short Name
CYP2C19 allele Geno Bld/T
Display Name
CYP2C19 gene allele genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
CYP2C19 gene allele genotype, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.73
Change Reason
Release 2.68: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; SYSTEM: Updated System from "Bld/Tiss/Sal" to "Bld/Tiss" since this System in LOINC encompasses all specimens used for germline nucleic acid testing, including blood, tissue and cells contained in swabs as well as fluids such as saliva.; COMPONENT: Updated Component to align with the LOINC term naming model for concepts used to report allelic genotypes (e.g. CYP2C19*1/*12 ), which was the original intent for this term.; Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; SYSTEM: Updated System from "Bld/Tiss/Sal" to "Bld/Tiss" since this System in LOINC encompasses all specimens used for germline nucleic acid testing, including blood, tissue and cells contained in swabs as well as fluids such as saliva.; Previous Releases: Added specimen of saliva since Cytochrome P450 gene testing is commonly done on saliva as well as blood specimens and results are theoretically the same for both.; 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
7198

Example Answer List LL950-7

Answer Code Score Answer ID
CYP2C19*1/*1 LA13515-4
CYP2C19*1/*2 LA13516-2
CYP2C19*1/*3 LA13517-0
CYP2C19*2/*2 LA13518-8
CYP2C19*2/*3 LA13519-6
CYP2C19*3/*3 LA13520-4

Member of these Panels

LOINC Long Common Name
72886-5 CYP2D6 gene and CYP2C19 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: CYP2C19 Genotyp.
es-MX Spanish (Mexico) Alelo del gen CYP2C19:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Alelo del gen CYP2C19:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) CYP2C19 gène allèle:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CYP2C19, gene allele:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Gene CYP2C19 Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) CYP2C19-allel:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: CYP2C19 gen molgen
pt-BR Portuguese (Brazil) CYP2C19 análise de mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: cytochrome P-450 II C; cytochrome P450, family 2, subfamily C, polypeptide 19; 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) CYP2C19 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: Cytochrome P450, family 2, subfamily C, polypeptide 19;细胞色素 P450, 家族 2, 亚家族 C, 多肽 19;CYP2C19;细胞色素P450 2C19;Cytochrome P450 2C19 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

79714-2 CYP2C19 gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method

Term Description

The CYP2C19 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 CYP2C19 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

LP202918-1   CYP2C19 gene product metabolic activity interpretation
Cytochrome P450-2C19 (CYP2C19; [HGNC Gene ID: 2621]), 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 CYP2C19 can affect the response (i.e., efficacy or toxicity) to drugs metabolized by CYP2C19 and selection of alternative dosing or agents may be necessary in individuals with specific CYP2C19 genetic variations. PMID: 23486447 PMID: 23698643 PMID: 25974703 See https://www.pharmgkb.org/gene/PA124 for more information and dosing guidelines for drugs impacted by CYP2C19 genetic variation. Source: Clinical Pharmacogenetics Implementation Consortium

Fully-Specified Name

Component
CYP2C19 gene product metabolic activity interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Panel Name
Short Name
CYP2C19 gene prod met act imp Bld/T-Imp
Display Name
CYP2C19 gene product metabolic activity interpretation Molgen Ql (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
CYP2C19 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
10495

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
72886-5 CYP2D6 gene and CYP2C19 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación de la actividad metabólica del producto del gen CYP2C19:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
es-ES Spanish (Spain) Gen CYP2C19 interpretation de la actividad en el metabolismo de fármacos:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Ord:Genética molecular
fr-FR French (France) CYP2C19 gène activité métabolique interprétation:Interprétation:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) Interpretazione dell'attività metabolica del gene CYP2C19:Imp:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Farmacogenomica Gene CYP2C19 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) CYP2C19-gen product metabole activiteit interpretatie:interpretatie:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: CYP2C19 gen CYP2C19 gen product metabole activiteit interpretatie molgen
tr-TR Turkish (Turkey) CYP2C19 geni ürünü metabolik aktivite yorumu:İzlnm:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) CYP2C19 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: CYP2C19 基因产物新陈代谢(代谢)活性解释(说明、阐释、诠释、解释说明) Cytochrome P450, family 2, subfamily C, polypeptide 19;细胞色素 P450, 家族 2, 亚家族 C, 多肽 19;CYP2C19;细胞色素P450 2C19;Cytochrome P450 2C19 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