60577-4

SERPINE1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Description

LP62082-0 SERPINE1 gene
The SERPINE1 gene (serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1) [HGNC Gene ID:8583] is located on chromosome 7q22.1. This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] [NCBI Gene ID:5054] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: SERPINE1 gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Long Common Name: SERPINE1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name: SERPINE1 gene Mut Anl Bld/T
Display Name: SERPINE1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: SERPINE1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.73 (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
Common Test Rank Get Info: 19521

Language Variants Get Info

Tag	Language	Translation
el-GR	Greek (Greece)	Γονίδιο SERPINE1 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική Synonyms: Γονίδιο Γονίδιο SERPINE1 Εύρεση
es-ES	Spanish (Spain)	Gen SERPINE1 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutación dirigida al gen SERPINE1:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	SERPINE1 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	SERPINE1, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene SERPINE1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	SERPINE1-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: molgen SERPINE1 gen targeted
pt-BR	Portuguese (Brazil)	SERPINE1 análise de mutação do gene:Ident:Pt:Sg/Tecido:Nar:Genética molecular
ru-RU	Russian (Russian Federation)	SERPINE1 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)	SERPINE1 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	SERPINE1 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: PAI;PAI 1;PAI1;PAI-1;PLANH1;Serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1;Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1;丝氨酸 (或半胱氨酸) 蛋白酶抑制剂, 分化枝临床文档型;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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