Version 2.77

Part Description

LP19671-4   CACNA1S gene
The CACNA1S gene (calcium channel, voltage-dependent, L type, alpha 1S subunit) [HGNC Gene ID:1397] is located on chromosome 1q32. This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008] [NCBI Gene ID:779] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
CACNA1S gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
CACNA1S gene Mut Anl Bld/T
Display Name
CACNA1S gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CACNA1S gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.63
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.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen CACNA1S Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-AR Spanish (Argentina) análisis de la mutación del gen CACNA1S:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen CACNA1S:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) CACNA1S gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CACNA1S, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene CACNA1S Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) 카크나일에스 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) CACNA1S-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: CACNA1S gen molgen targeted
pt-BR Portuguese (Brazil) CACNA1S análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Hypokalemic periodic paralysis; DHP receptor; Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; CACH1; CACN1; CACNL1A3; HOKPP; HypoPP; MHS5; Malignant hyperthermia susceptibility 5; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) CACNA1S ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) CACNA1S geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) CACA1S 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: CACH1;CACN1;CACNL1A3;DHP 受体;HOKPP;HypoPP;MHS5;低血钾型周期性麻痹;低钾周期性麻痹;低钾性周期性瘫痪;低钾性周期性麻痹;恶性体温过高敏感性 5;恶性高温敏感性 5;恶性高温综合征敏感性 5;恶性高热敏感性 5;恶性高热症敏感性 5;钙离子通道, 电压依赖式, P/Q 型, alpha 1A 亚单位;钙离子通道, 电压依赖式, P/Q 型, alpha 1A 亚基;钙离子通道, 电压依赖式, P/Q 型, α 1A 亚单位;钙离子通道, 电压依赖式, P/Q 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 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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