Version 2.78

Term Description

CYP3A4 gene mutation analysis for targeted polymorphisms (SNPs) is performed to determine a patient's allellic genotype and overall drug metabolism phenotype (ultrarapid, extenisive, intermediate, or poor metabolizer). This term is used to report the patient's allelic genotype, drug metabolism phenotype and overall interpretation in a single narrative report. The submitter's lab currently (as of 2013) tests for the following CYP3A4 alleles: *1B, *1G, *3, *4, *5, *6, *10, *12, *17, *18, *20 and *22. Selection is based on current literature. For a complete list of alleles and more information on CYP3A4, see http://www.cypalleles.ki.se/cyp3a4.htm.
Source: Regenstrief LOINC

Part Descriptions

LP173520-0   CYP3A4 gene
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

LP173520-0   CYP3A4 gene
The CYP3A4 gene (cytochrome P450, family 3, subfamily A, polypeptide 4) [HGNC Gene ID:2637] is located on chromosome 7q21.1. This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam and erythromycin. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2011] [NCBI Gene ID:1576] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
CYP3A4 gene targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Long Common Name
CYP3A4 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
CYP3A4 Mut Anl Bld/T
Display Name
CYP3A4 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
CYP3A4 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.46
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: 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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both
Common Test Rank Get Info
15745

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen CYP3A4 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen CYP3A4:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) CYP3A4 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) CYP3A4, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Farmacogenomica Gene CYP3A4 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) CYP3A4-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: CYP3A4 gen molgen targeted
pt-BR Portuguese (Brazil) CYP3A4 gene análise de mutação:Ident:Pt:Sg/Tecido:Nar:Genética molecular
ru-RU Russian (Russian Federation) CYP3A4 ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) CYP3A4 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) CYP3A4 基因 突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因突变分析 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=74007-6