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Part Description

LP61792-5   THRB gene
The THRB gene (thyroid hormone receptor, beta) [HGNC Gene ID:11799] is located on chromosome 3p24.2. The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7068] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

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

Part Model Get Info

  • Component
    THRB gene mutations
    LP452100-3
    • Analyte
      THRB gene mutations
      LP452100-3
      • Component Numerator
        THRB gene mutations
        LP452100-3
      • 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 2.21
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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen THRB cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο THRB στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο THRB Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen THRB:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ESSpanish (Spain)Gen THRB Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FRFrench (France)THRB gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)THRB, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene THRB Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)THRB-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted THRB gen
pl-PLPolish (Poland)THRB gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu THRB diagnostyka molekularna Gen THRB wynik kategorialny
pt-BRPortuguese (Brazil)THRB análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ERBA-BETA; ERBA2; GRTH; MGC126109; MGC126110; NR1A2; THRB1; THRB2; Thyroid hormone receptor beta-1; Thyroid hormone receptor beta-2; 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)THRB 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)THRB geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)THRB 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: ERBA2;ERBA-BETA;GRTH;MGC126109;MGC126110;NR1A2;THRB1;THRB2;甲状腺激素受体 B1;甲状腺激素受体 B2;甲状腺激素受体 beta-1;甲状腺激素受体 beta-1（Thyroid hormone receptor beta-1，THRB1）;甲状腺激素受体 beta-2;甲状腺激素受体 beta-2（Thyroid hormone receptor beta-2，THRB2）;甲状腺激素受体 β1;甲状腺激素受体 β2 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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https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=47974-1