Version 2.78

Part Descriptions

LP19693-8   CYP2D6 gene
The CYP2D6 gene (cytochrome P450, family 2, subfamily D, polypeptide 6) [HGNC Gene ID:2625] is located on chromosome 22q13.1. This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] [NCBI Gene ID:1565] Source: National Center for Biotechnology Information (NCBI) Gene

LP31754-2   CYP2D6 gene deletion
Deletion of the entire CYP2D6 gene (CYP2D6*5 allele) results in defective CYP2D6 enzymatic activity and therefore impaired ability to metabolize various drugs for CYP2D6, such as debrisoquine and sparteine. PMID: 16272752 Individuals with this variant are classified as poor metabolizers (PM).[OMIM: 124030] Source: Regenstrief LOINC

Fully-Specified Name

Component
CYP2D6 gene deletion
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
CYP2D6 Del Bld/T
Display Name
CYP2D6 gene del Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CYP2D6 gene deletion analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 1.0m
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: Changed Component from "CYP2D6 gene mutation analysis Del" to "CYP2D6 gene deletion" to clarify that this test is looking for large deletions in the CYP2D6 gene.
Order vs. Observation
Both
Common Test Rank Get Info
13950

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) análisis de deleción de mutación del gen CYP21A2:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES Spanish (Spain) Gen CYP2D6 Deleción:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Deleción del gen CYP2D6:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) CYP2D6 gène délétion:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CYP2D6, gene Delezione:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Gene CYP2D6 Gene CYP2D6 Delezione Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) CYP2D6 유전자 돌연변이 분석 결손:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) CYP2D6-gen deletie:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: CYP2D6 gen molgen
pt-BR Portuguese (Brazil) Citocromo P450 2D6 (CYP2D6) análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; CYP2D6 gene Del; 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
ru-RU Russian (Russian Federation) CYP2D6 ген делеция: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) CYP2D6 geni delesyon:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) CYP2D6 基因 缺失: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: 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 基因突变分析 基因缺失;CYP2D6 基因缺失 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 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 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=21661-4