Version 2.78

Term Description

The patient's CYP3A4 gene allelic genotype (e.g. *1/*22) based on analysis of multiple variants within the CYP3A4 gene, including c.-392A>G (*1B, rs2740574) and the intron 6 C>T polymorphism (rs35599367, *22).
Source: Regenstrief LOINC

Part Description

LP417570-1   CYP3A4 gene allele
Cytochrome P450 3A4 (abbreviated CYP3A4) is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Over 30 single nucleotide polymorphisms (SNPs) have been identified in this gene, most of which are not clinically significant. Few have been found to decrease catalytic activity with certain ligands, including testosterone and nifedipine, in comparison to wild-type metabolism. Examples of these alleles and associated SNPs include CYP3A4*6 (an A17776 insertion), CYP3A4*17 (15615T>C) and CYP3A4*22 (15389C>T). A full list of alleles, nucleotide changes and their described enzymatic activity can be found at http://www.cypalleles.ki.se/cyp3a4.htm. Source: Regenstrief LOINC

Fully-Specified Name

Component
CYP3A4 gene allele
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
CYP3A4 allele Geno Bld/T
Display Name
CYP3A4 gene allele genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
CYP3A4 gene allele genotype, Blood or tissue specimen

Example Answer List: LL3935-5

Source: Laboratory Corporation of America
Answer Code Score Answer ID
CYP3A4*1/*1 LA25988-9
CYP3A4*1/*22 LA25989-7
CYP3A4*22/*22 LA25990-5

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.56
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. CYP3A4*1/*22), which was the original intent for this term.; Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.
Order vs. Observation
Both
Common Test Rank Get Info
9797

Member of these Panels

LOINC Long Common Name
81642-1 CYP3A4 and CYP3A5 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Alelo del gen CYP3A4:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Alelo del gen CYP3A4:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) CYP3A4 gène allèle:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CYP3A4, gene allele:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Gene CYP3A4 Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) CYP3A4-allel:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: CYP3A4 gen molgen
zh-CN Chinese (China) CYP3A4 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: 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 细胞色素 P450, 家族 3, 亚家族 A, 多肽 4;cytochrome P450, family 3, subfamily A, polypeptide 4;NCBI NM_017460.3;HLP;CP33;CP34;CYP3A;NF-25;CYP3A3;P450C3;P450PCN1;MGC126680;CYP3A4 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=81139-8