51756-5

ATP7B gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Description

LP19656-5 ATP7B gene
The ATP7B gene (ATPase, Cu++ transporting, beta polypeptide) [HGNC Gene ID:870] is located on chromosome 13q14.3. This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008] [NCBI Gene ID:540] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: ATP7B gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Short Name: ATP7B gene Mut Anl Bld/T
Display Name: ATP7B gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: ATP7B gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.24
Last Updated: Version 2.73
Change Reason: 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: 18597

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Gen ATP7B Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutación dirigida al gen ATP7B:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	ATP7B gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	ATP7B, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene ATP7B Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	ATP7B-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: ATP7B gen molgen targeted
pt-BR	Portuguese (Brazil)	ATP7B análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: Wilson disease; CU(2+)- transporting beta polypeptide; WND; PWD; WC1; ATPase gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	ATP7B 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)	ATP7B geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	ATP7B 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: ATP 酶基因;ATPase 基因;CU(2+)-转运 Beta 多肽;CU(2+)-转运β多肽;PWD;WC1;Wilson 病;WND;三磷酸腺苷酶基因;威尔森氏症;威尔逊病;肝豆状核变性;腺苷三磷酸酶基因;铜(2+)-转运 Beta 多肽;铜(2+)-转运β多肽;铜离子转运 Beta 多肽;铜离子-转运 Beta 多肽;铜离子转运β多肽;铜离子-转运β多肽临床文档型;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.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变分子病理学;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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