44420-8

CACNA1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Description

LP19785-2 CACNA1A gene
The CACNA1A gene (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit) [HGNC Gene ID:1388] is located on chromosome 19p13. Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010] [NCBI Gene ID:773] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name: CACNA1A gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name: CACNA1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name: CACNA1A gene Mut Anl Bld/T
Display Name: CACNA1A gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: CACNA1A gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

Component
CACNA1A gene targeted mutation analysis
LP227856-4
- Analyte
  CACNA1A gene targeted mutation analysis
  LP227856-4
  - Component Numerator
    CACNA1A gene targeted mutation analysis
    LP227856-4
    - Component Numerator Core
      CACNA1A gene
      LP19785-2
    - 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
Find
LP6813-2
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Doc
LP32888-7
Method
Molgen
LP6404-0

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.17
Last Updated: Version 2.66 (MAJ)
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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen CACNA1A cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο CACNA1A στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο CACNA1A Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ES	Spanish (Spain)	Gen CACNA1A Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen CACNA1A:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	CACNA1A gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	CACNA1A, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene CACNA1A Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	CACNA1A-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: CACNA1A gen molgen targeted
pl-PL	Polish (Poland)	CACNA1A gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna Synonyms: Analiza mutacji genu CACNA1A diagnostyka molekularna Gen CACNA1A
pt-BR	Portuguese (Brazil)	CACNA1A análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: Spinocerebellar ataxia; Ataxia-6; SCA6; Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; APCA; CACH4; CACN3; CACNL1A4; EA2; FHM; HPCA; MHP; MHP1; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	CACNA1A ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	CACNA1A geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (China)	CACNA1A 基因突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法 Synonyms: APCA;Ataxia-6;CACH4;CACN3;CACNL1A4;EA2;FHM;HPCA;MHP;MHP1;SCA6;脊髓小脑共济失调;脊髓小脑共济失调 6 型基因;脊髓小脑性共济失调;钙离子通道, 电压依赖, P/Q 型, alpha 1A 亚单位;钙离子通道, 电压依赖, P/Q 型, alpha 1A 亚基;钙离子通道, 电压依赖, P/Q型, α1A 亚单位;钙离子通道, 电压依赖, P/Q型, α1A 亚基;钙离子通道, 电压依赖式, P/Q 型, alpha 1A 亚单位;钙离子通道, 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书全血或组织;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;聚合酶链式反应发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论基因突变分析时刻;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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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.