38409-9

SERPINA1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Description

LP19753-0 SERPINA1 gene
The SERPINA1 gene (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1) [HGNC Gene ID:8941] is located on chromosome 14q32.1. The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5265] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: SERPINA1 gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Short Name: SERPINA1 gene Mut Anl Bld/T
Display Name: SERPINA1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: SERPINA1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.14
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: 16044

Language Variants Get Info

Tag	Language	Translation
es-AR	Spanish (Argentina)	gen SERPINA1:presencia o identidad:punto en el tiempo:tejido, no especificado:Narrativo:genética molecular
es-ES	Spanish (Spain)	Gen SERPINA1 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutación dirigida al gen SERPINA1:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	SERPINA1 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	SERPINA1, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene SERPINA1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	SERPINA1 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL	Dutch (Netherlands)	SERPINA1-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: molgen SERPINA1 gen targeted
pt-BR	Portuguese (Brazil)	SERPINA1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: Alpha-1-antitrypsin deficiency; Anti-elastase gene; A1A; PI1; Protease inhibitor 1; Serine (or cysteine) proteinase inhibitor; AAT; PI; 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)	SERPINA1 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)	SERPINA1 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	SERPINA1 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: A1A;AAT;Alpha-1-抗胰蛋白酶缺乏;PI;PI1;α1抗胰蛋白酶缺乏;α-1-抗胰蛋白酶缺乏;丝氨酸(或半胱氨酸)蛋白水解酶抑制剂;丝氨酸(或半胱氨酸)蛋白酶抑制剂;丝氨酸蛋白水解酶抑制剂;丝氨酸蛋白酶抑制剂;半胱氨酸蛋白水解酶抑制剂;半胱氨酸蛋白酶抑制剂;抗弹性蛋白酶基因;抗胰肽酶 e 基因;蛋白水解酶抑制剂 1;蛋白酶抑制剂 1;蛋白酶抑制因子 1 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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