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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).

Part Description

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

LOINC Names Get Info

Fully-Specified Name
CYP2D6 gene allele:Geno:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
CYP2D6 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
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

Part Model Get Info

  • Component
    CYP2D6 gene allele
    LP417569-3
    • Analyte
      CYP2D6 gene allele
      LP417569-3
      • Component Numerator
        CYP2D6 gene allele
        LP417569-3
        • Component Numerator Core
          CYP2D6 gene allele
          LP417569-3
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Geno
    LP345004-8
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Example Answer List: LL5517-9

Source: Regenstrief LOINC
AnswerCodeScoreAnswer ID
CYP2D6*1A/*4X2LA30687-0
CYP2D6*1A/*1BLA30688-8
CYP2D6*1A/*1CLA30689-6
CYP2D6*1C/*6BLA30690-4

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.73 (MIN)
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

Member of these Panels

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CYP2D6 alela:Genotyp:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Αλληλόμορφο γονιδίου CYP2D6:Geno:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: Geno MOLPATH MOLPATH.PHARMG Nom Pt Αίμα Αίμα/Ιστός Αλληλόμορφο γονιδίου CYP2D6 Γονίδιο Γονίδιο CYP2D6 Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Alelo del gen CYP2D6:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Alelo del gen CYP2D6:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)CYP2D6 gène allèle:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (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-KRKorean (Korea, Republic Of)CYP2D6 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)CYP2D6-allel:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: CYP2D6 gen molgen
pl-PLPolish (Poland)CYP2D6 gen allel:genotyp:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Allel genu CYP2D6 diagnostyka molekularna Gen CYP2D6 wynik kategorialny
pt-BRPortuguese (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-CNChinese (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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=40425-1