41748-5

CAPN3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Description

LP35855-3 CAPN3 gene
The CAPN3 gene (calpain 3, (p94)) [HGNC Gene ID:1480] is located on chromosome 15q15.1. Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008] [NCBI Gene ID:825] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: CAPN3 gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

Long Common Name: CAPN3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name: CAPN3 gene Mut Anl Bld/T
Display Name: CAPN3 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: CAPN3 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.16
Last Updated: Version 2.66 (MAJ)
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 CAPN3 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική Synonyms: Γονίδιο Γονίδιο CAPN3 Εύρεση
es-ES	Spanish (Spain)	Gen CAPN3 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen CAPN3:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	CAPN3 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	CAPN3, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene CAPN3 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	CAPN3 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL	Dutch (Netherlands)	CAPN3-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: CAPN3 gen molgen targeted
pt-BR	Portuguese (Brazil)	CAPN3 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: CANP3; CANPL3; LGMD2; LGMD2A; MGC10767; MGC11121; MGC14344; MGC4403; nCL-1; calpain 3, (p94); Limb girdle muscular dystrophy 2A (autosomal recessive); Muscle-specific calcium-activated neutral protease 3 large subunit; 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)	CAPN3 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)	CAPN3 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	CAP3 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: calpain 3, (p94);CANP3;CANPL3;LGMD2;LGMD2A;MGC10767;MGC11121;MGC14344;MGC4403;nCL-1;肌肉特异性钙激活型中性蛋白酶 3 大亚单位;肌肉特异性钙激活型中性蛋白酶 3 大亚基;肢带 2A 型肌营养不良(常染色体隐性);肢带型肌营养不良症 2A (常染色体隐性);肢带肌肉萎缩 2A (常染色体隐性);肢带肌肉营养不良症 2A (常染色体隐性);肢带肌营养不良 2A (常染色体隐性);肢带肌营养障碍 2A (常染色体隐性);钙活化中临床文档型;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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