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Part Descriptions

LP33158-4   TTR gene
Detects sequence variations in the Transthyretin gene used in detection of Familial Amyloid Cardiomyopathy and Familial Amyloid Polyneuropathy. Source: Regenstrief Institute

LP33158-4   TTR gene
The TTR gene (transthyretin) [HGNC Gene ID:12405] is located on chromosome 18q12.1. This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq, Jan 2009] [NCBI Gene ID:7276] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

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

Part Model Get Info

  • Component
    TTR gene targeted mutation analysis
    LP229869-5
    • Analyte
      TTR gene targeted mutation analysis
      LP229869-5
      • Component Numerator
        TTR gene targeted mutation analysis
        LP229869-5
        • Component Numerator Core
          TTR gene
          LP33158-4
        • 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
  • 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 2.22
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

TagLanguageTranslation
cs-CZCzech (Czechia)Gen TTR cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο TTR στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο TTR Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen TTR Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen TTR:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)TTR gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)TTR, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene TTR Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)TTR-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen targeted TTR gen
pl-PLPolish (Poland)TTR gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza mutacji genu TTR diagnostyka molekularna Gen TTR
pt-BRPortuguese (Brazil)TTR análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: PALB; TBPA; Transthyretin (prealbumin, amyloidosis type I) gene; 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-RURussian (Russian Federation)TTR ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)TTR geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)TTR 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: PALB;TBPA;前白蛋白基因;甲状腺素运载蛋白 (前白蛋白, 淀粉样变性 I 型) 基因;甲状腺素运载蛋白基因;转甲状腺素蛋白 (前白蛋白, 淀粉样变性 I 型) 基因;转甲状腺素蛋白（一种主要由肝脏和脉络丛产生的分子质量约为55 kD的四聚体血浆蛋白）;转甲状腺素蛋白基因;转甲状腺蛋白基因;转甲蛋白 (前白蛋白, 淀粉样变性 I 型) 基因;转甲蛋白基因 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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=49708-1