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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

LOINC Names Get Info

Fully-Specified Name
CAV3 gene targeted mutation analysis:PrThr:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
CAV3 gene targeted mutation analysis [Presence] in Blood or Tissue by Molecular genetics method
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

Part Model Get Info

  • Component
    CAV3 gene targeted mutation analysis
    LP227917-4
    • Analyte
      CAV3 gene targeted mutation analysis
      LP227917-4
      • Component Numerator
        CAV3 gene targeted mutation analysis
        LP227917-4
        • Component Numerator Core
          CAV3 gene
          LP94500-3
        • Component Numerator Core Suffix
          targeted mutation analysis
          LP32419-1
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    PrThr
    LP217195-9
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Example Answer List: LL360-9

Source: Regenstrief Institute
AnswerCodeScoreAnswer 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 (MIN)
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

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CAV3 cílená mutační analýza:Přítomnost nebo práh:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο CAV3 στοχευμένη ανάλυση μεταλλάξεων:PrThr:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Ord PrThr Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο CAV3 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen CAV3 Analisis de mutaciones:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen CAV3:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)CAV3 gène mutation cible trouvée:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (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-NLDutch (Netherlands)CAV3-gen doelgerichte mutatie-analyse:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: CAV3 gen molgen targeted
pl-PLPolish (Poland)CAV3 gen ukierunkowana analiza mutacji:granica wykrywalności:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: Analiza mutacji genu CAV3 diagnostyka molekularna Gen CAV3
pt-BRPortuguese (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-RURussian (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-TRTurkish (Turkey)CAV3 geni Mutasyon analizi:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CNChinese (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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=55296-8