72511-9

CYP2B6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Descriptions

LP157451-8 CYP2B6 gene
CYP2B6 gene encodes a member of the cytochrome P450 enzymes, which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. CYP2B6, along with CYP2A6, is involved with metabolizing nicotine as well as many other substances. Transcript variants for the CYP2B6 gene have been described, including 415A>G (*8), 516G>T (*9), 983T>C (*16), and 1459C>T(*5), and are associated with altered drug metabolism. CYP2B6 gene is found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, CYP2B6 (Wikipedia)

LP157451-8 CYP2B6 gene
The CYP2B6 gene (cytochrome P450, family 2, subfamily B, polypeptide 6) [HGNC Gene ID:2615] is located on chromosome 19q13.2. This gene, CYP2B6, 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 its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1555] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: CYP2B6 gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Short Name: CYP2B6 Mut Anl Bld/T
Display Name: CYP2B6 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: CYP2B6 gene targeted mutation analysis, Blood or tissue specimen

Associated Observations

78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue

LOINC	Name	R/O/C	Cardinality	Example UCUM Units
78046-0	Pharmacogenomic analysis basic associated observations panel - Blood or Tissue
Indent51963-7	Medication assessed [ID]
Indent48018-6	Gene studied [ID]
Indent48008-7	Allele name [Identifier]
Indent48013-7	Genomic reference sequence [ID]
Indent51958-7	Transcript reference sequence [ID]
Indent51971-0	Gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method
Indent51964-5	Drug efficacy analysis overall interpretation

Basic Attributes

Class: MOLPATH.PHARMG
Type: Laboratory
First Released: Version 2.42
Last Updated: Version 2.67
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

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	gen CYP2B6 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen CYP2B6:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	CYP2B6 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	CYP2B6, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Farmacogenomica Gene CYP2B6 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	CYP2B6-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: molgen targeted
pt-BR	Portuguese (Brazil)	CYP2B6 gene análise de mutação:Ident:Pt:Sg/Tecido:Nar:Genética molecular
ru-RU	Russian (Russian Federation)	CYP2B6 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)	CYP2B6 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	CYP2B6 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: cytochrome P450, family 2, subfamily B, polypeptide 6;细胞色素 P450, 家族 2, 亚家族 B, 多肽 6;CYP2B6 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 & 涂片血;血液遗传基因;遗传因子;吉恩;生物基因

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