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Part Descriptions

LP97962-2   SCN4A gene
Sodium channel protein type 4 subunit alpha is a protein that in humans is encoded by the SCN4A gene.

The Nav1.4 voltage-gated sodium channel is encoded by the SCN4A gene. Mutations in the gene are associated with hypokalemic periodic paralysis, hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, SCN4A gene

LP97962-2   SCN4A gene
The SCN4A gene (sodium channel, voltage gated, type IV alpha subunit) [HGNC Gene ID:10591] is located on chromosome 17q23.3. Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6329] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
SCN4A gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
SCN4A gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
SCN4A gene Mut Bld/T Mut Anl
Display Name
SCN4A gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
SCN4A gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    SCN4A gene mutations
    LP452165-6
    • Analyte
      SCN4A gene mutations
      LP452165-6
      • Component Numerator
        SCN4A gene mutations
        LP452165-6
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.83 (NAM)
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
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen SCN4A cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο SCN4A στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο SCN4A Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MXSpanish (Mexico)Análisis de mutación dirigida al gen SCN4A:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ESSpanish (Spain)Gen SCN4A Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FRFrench (France)SCN4A gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)SCN4A, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene SCN4A Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)SCN4A-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen SCN4A gen targeted
pl-PLPolish (Poland)SCN4A gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu SCN4A diagnostyka molekularna Gen SCN4A wynik kategorialny
pt-BRPortuguese (Brazil)SCN4A análise de mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: 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-RURussian (Russian Federation)SCN4A 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-TRTurkish (Turkey)SCN4A geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)SCN4A 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: HYKPP;HYPP;Na(V)1.4;NAC1A;Nav1.4;SkM1;skeletal muscle voltage-dependent sodium channel type IV alpha subunit;voltage-gated sodium channel type 4 alpha;sodium channel, voltage-gated, type IV, alpha subunit;骨骼肌电压依赖性钠离子通道 IV 型 alpha 亚基;骨骼肌电压依赖性钠离子通道 IV 型 alp 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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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=58045-6