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Term Description

Familial dysautonomia is a hereditary disorder affecting the autonomic nervous system.

Part Description

LP30752-7   DYS gene
The DYS gene (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) gene is located on chromosome 9q31. The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. [provided by RefSeq, Jul 2008] [NCBI Gene ID:8518] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

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

Part Model Get Info

  • Component
    DYS gene mutations
    LP451953-6
    • Analyte
      DYS gene mutations
      LP451953-6
      • Component Numerator
        DYS gene mutations
        LP451953-6
      • 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 2.09
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
Both
Common Test Rank Get Info
6681

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen DYS cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο DYS στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο DYS Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ARSpanish (Argentina)análisis de mutación genética DYS:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ESSpanish (Spain)Gen DYS Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen DYS:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)DYS gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)DYS, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene DYS Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)DYS 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)DYS-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: DYS gen molgen targeted
pl-PLPolish (Poland)DYS gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu DYS;Analiza mutacji genu ELP1 diagnostyka molekularna Gen DYS wynik kategorialny
pt-BRPortuguese (Brazil)DYS análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Familial dysatonomia; FD; Dysautonomia; Riley-Day syndrome; IKAP; IKBKAP; 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)DYS 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)DYS geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
uk-UAUkrainian (Ukraine)DYS ген аналіз цільової мутації:Наявність або Ідентифікація:МоментЧасу:Кров/Тканини:Категорійно:Молекулярна генетика
Synonyms: Blood; DYS; Dysautonomia; ELP1; Familial dysatonomia; FD; Genetics; Heredity; Heritable; Identity or presence; IKAP; IKBKAP; IKI3; Inherited; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; PCR; Point in time; Random; Riley-Day syndrome; Tissue; Tissue, unspecified; TOT1; WB; Whole blood; Whole blood or Tissue
zh-CNChinese (China)DYS 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: FD;IKAP;IKBKAP;Riley-Day 综合征;家族性植物神经失调综合征;家族性自主神经异常;自主运动不能;赖利-戴综合征;雷德二氏症候群 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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