Version 2.73

55296-8CAV3 gene targeted mutation analysis [Presence] in Blood or Tissue by Molecular genetics methodActive

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] Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Source: National Center for Biotechnology Information (NCBI) Gene, Link to OMIM

Fully-Specified Name

CAV3 gene targeted mutation analysis

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
CAV3 gene variant analysis, Blood or tissue specimen

Example Answer List LL360-9

Source: Regenstrief Institute

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

Basic Attributes

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

Language Variants Get Info

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
nl-NLDutch (Netherlands)
CAV3-gen doelgerichte mutatie-analyse:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
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
pt-BRPortuguese (Brazil)
CAV3 análise de mutação do gene:Ident:Pt:Sg/Tecido:Ord:Genética molecular
ru-RURussian (Russian Federation)
CAV3 ген исследование на мутацию:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
es-MXSpanish (Mexico)
Análisis de mutaciones dirigidas al gen CAV3:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
es-ESSpanish (Spain)
Gen CAV3 Analisis de mutaciones:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
tr-TRTurkish (Turkey)
CAV3 geni Mutasyon analizi:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info