Version 2.78

Term Description

CYP2D6 and CYP2C19 cytochrome P450 genes play a major role in the metabolism of many widely prescribed drugs, including anti-depressants, anti-psychotics, anti-epileptics, proton pump inhibitors, and beta-blockers. The CYP2D6 gene has at least 70 allelic variants resulting in four phenotypic types: poor metabolizers with gene inactivation of both alleles, intermediate metabolizers with one reduced activity allele and one null allele, extensive metabolizers with at least one functional allele, and ultra-rapid metabolizers with excess enzymatic activity due to multiple copies of functional alleles from gene duplication. The CYP2C19 gene has two major variant alleles that result in enzyme deficiency. This panel term is created for, but not limited to, Roche Diagnostics' AmpliChip CYP450 assay, which detects 29 polymorphisms in the 2D6 and 2 polymorphisms in the 2C19 gene, as well as gene duplications and deletions.
Source: Regenstrief LOINC

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
72886-5 CYP2D6 gene and CYP2C19 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method
Indent40425-1 CYP2D6 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
Indent79715-9 CYP2D6 gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method
Indent57132-3 CYP2C19 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
Indent79714-2 CYP2C19 gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method

Fully-Specified Name

Component
CYP2D6 gene & CYP2C19 gene targeted mutation analysis panel
Property
-
Time
Pt
System
Bld/Tiss
Scale
-
Method
Molgen

Additional Names

Short Name
CYP2D6+CYP2C19 pnl Bld/T
Display Name
CYP2D6 gene and CYP2C19 gene targeted mutation analysis panel Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
CYP2D6 gene and CYP2C19 gene Targeted Mutation Analysis Panel, Blood or tissue specimen

Basic Attributes

Class
PANEL.MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.67
Change Reason
Release 2.67: CLASS: Updated to PANEL.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: 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
Order
Panel Type
Panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Panel de análisis de mutación de gen CYP2D6 & gen CYP2C19:Propiedades mixtas (sólo paneles):Punto temporal:Sangre o tejido:-:Genética molecular
es-MX Spanish (Mexico) Panel de análisis de mutaciones dirigidas al gen CYP2D6 y al gen CYP2C19:-:Punto temporal:Sangre o tejido:-:Genética molecular
fr-FR French (France) CYP2D6 et CYP2C19 gènes mutation cible trouvée panel:-:Ponctuel:Sang/Tissu:-:Biologie moléculaire
it-IT Italian (Italy) CYP2D6 & CYP2C19, analisi mutazione mirata del gene, panel:-:Pt:Sangue/Tess:-:Molgen
Synonyms: Farmacogenomica Gene CYP2C19 Gene CYP2D6 Genetica molecolare Panel analisi di mutazione mirata del gene CYP2D6 Panel farmacogenomica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Set di prescrizione patologia molecolare Tessuto & Strisci
nl-NL Dutch (Netherlands) CYP2D6-gen & CYP2C19 doelgerichte genmutatie-analyse panel:-:moment:bloed of weefsel:-:moleculair genetisch onderzoek
Synonyms: CYP2C19 gen CYP2D6 gen molgen
pt-BR Portuguese (Brazil) CYP2D6 gene & CYP2C19 gene análise de mutação painel::Pt:Sg/Tecido:-:
ru-RU Russian (Russian Federation) CYP2D6 ген & CYP2C19 ген мутация анализ панель:-:ТчкВрм:Кр/Тк:-:МолГен
Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
zh-CN Chinese (China) CYP2D6 基因与 CYP2C19 基因突变分析组套:-:时间点:全血/组织:-: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 基因与 CYP2C19 基因突变分析组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;细胞色素 P450, 家族 2, 亚家族 D, 多肽 6;细胞色素 P450, 家族 2, 亚家族 C, 多肽 19 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 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.分子病理学;分子病理学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）.药物基因组学（药物基因体学、药物基因学、药物基因组）;分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组.分子病理学;分子病理学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 组 组合 组合医嘱 组合类 组套 血;血液 遗传基因;遗传因子;吉恩;生物基因

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https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/72886-5