21641-6

CACNA1S gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

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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

Long Common Name: CACNA1S gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
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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