55296-8

CAV3 gene targeted mutation analysis [Presence] in Blood or Tissue by Molecular genetics method

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Part Description

LP94500-3 CAV3 gene
The CAV3 gene (caveolin 3) [HGNC Gene ID:1529] is located on chromosome 3p25. This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008] [NCBI Gene ID:859] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: CAV3 gene targeted mutation analysis
Property: PrThr
Time: Pt
System: Bld/Tiss
Scale: Ord
Method: Molgen

Additional Names

Short Name: CAV3 gene Mut Anl Bld/T Ql
Display Name: CAV3 gene targeted mutation analysis Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info: CAV3 gene targeted mutation analysis, Blood or tissue specimen

Example Answer List: LL360-9

Source: Regenstrief Institute

Answer	Code	Score	Answer ID
PositiveCopyright http://snomed.info/sct ID:10828004 Positive (qualifier value)			LA6576-8
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value)			LA6577-6

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.27
Last Updated: Version 2.63
Change Reason: The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.; 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.
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Gen CAV3 Analisis de mutaciones:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen CAV3:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR	French (France)	CAV3 gène mutation cible trouvée:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT	Italian (Italy)	CAV3, gene analisi di mutazione mirata:PrThr:Pt:Sangue/Tess:Ord:Molgen Synonyms: Gene CAV3 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	CAV3-gen doelgerichte mutatie-analyse:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek Synonyms: CAV3 gen molgen targeted
pt-BR	Portuguese (Brazil)	CAV3 análise de mutação do gene:Ident:Pt:Sg/Tecido:Ord:Genética molecular Synonyms: Caveolin 3; CAV-3; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	CAV3 ген исследование на мутацию:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	CAV3 geni Mutasyon analizi:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen Synonyms: Mevcut
zh-CN	Chinese (China)	CAV3 基因突变分析:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法 Synonyms: caveolin-3;CAV3;窑蛋白-3;窑蛋白-3 基因;心脏钠通道功能异常;为长QT综合征依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型全血或组织;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;聚合酶链式反应基因突变分析存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值）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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