34507-4

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

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Part Description

LP31881-3 PRX gene
The PRX gene (peroxiredoxin 6) [HGNC Gene ID:13797] is located on chromosome 1q25.1. The protein encoded by this gene is a member of the thiol-specific antioxidant protein family. This protein is a bifunctional enzyme with two distinct active sites. It is involved in redox regulation of the cell; it can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. It may play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury. [provided by RefSeq, Jul 2008] [NCBI Gene ID:9588] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

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

Additional Names

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

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.10
Last Updated: Version 2.66
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
es-AR	Spanish (Argentina)	análisis de mutación de gen PRX:presencia o identidad:punto en el tiempo:sangre entera/tejido:Narrativo:genética molecular
es-ES	Spanish (Spain)	Gen PRX Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen PRX:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	PRX gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	PRX, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene PRX Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	PRX 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL	Dutch (Netherlands)	PRX-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: molgen PRX gen targeted
pt-BR	Portuguese (Brazil)	PRX análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: Periaxin; CMT4F; KIAA1620; 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)	PRX 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)	PRX geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	PRX 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: CMT4F;KIAA1620;Periaxin;Periaxin 基因（一种与CMT有关的基因。研究表明，该基因编码的蛋白质在促使神经细胞周围的绝缘体随着神经元的伸长而延伸的过程中起到重要作用。如果Periaxin基因出错，那么绝缘体（髓磷脂）就无法延长，而神经元也因此无法快速传导神经脉冲，病人会丧失行走能力）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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