53853-8

COL4A5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Description

LP71416-9 COL4A5 gene
The COL4A5 gene (collagen, type IV, alpha 5) [HGNC Gene ID:2207] is located on chromosome Xq22. This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010] [NCBI Gene ID:1287] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: COL4A5 gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Long Common Name: COL4A5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name: COL4A5 gene Mut Anl Bld/T
Display Name: COL4A5 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: COL4A5 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.26
Last Updated: Version 2.68 (MIN)
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

Language Variants Get Info

Tag	Language	Translation
el-GR	Greek (Greece)	Γονίδιο COL4A5 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική Synonyms: Γονίδιο Γονίδιο COL4A5 Εύρεση
es-ES	Spanish (Spain)	Gen COL4A5 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen COL4A5:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	COL4A5 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	COL4A5, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene COL4A5 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	COL4A5-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: COL4A5 gen molgen targeted
pt-BR	Portuguese (Brazil)	COL4A5 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: ASLN; ATS; CA54; Alport syndrome; alpha 5 type IV collagen; collagen IV, alpha-5 polypeptide; collagen of basement membrane, alpha-5 chain; collagen, type IV, alpha 5; 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)	COL4A5 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)	COL4A5 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	COL4A5 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: ASLN; ATS; CA54; MGC167109; MGC42377; ATS; CA54; MGC167109; MGC42377; OTTHUMP00000023838; dA149D17.3; dA24A23.1; collagen IV, alpha-5 polypeptide; collagen of basement membrane, alpha-5 chain; type IV collagen alpha 5; collagen, type IV, alpha 5; 胶原蛋白 IV 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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