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Term Description

This term is used for carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the FBN1 gene. Mutation analysis only includes testing for the known familial mutation(s).

Part Description

LP35579-9   FBN1 gene
The FBN1 gene (fibrillin 1) [HGNC Gene ID:3603] is located on chromosome 15q21.1. This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2200] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
FBN1 gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
FBN1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
Short Name
FBN1 gene Fam Mut Anl Bld/T
Display Name
FBN1 gene familial mut analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
FBN1 gene familial variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    FBN1 gene mutation analysis limited to known familial mutations
    LP228415-8
    • Analyte
      FBN1 gene mutation analysis limited to known familial mutations
      LP228415-8
      • Component Numerator
        FBN1 gene mutation analysis limited to known familial mutations
        LP228415-8
        • Component Numerator Core
          FBN1 gene
          LP35579-9
        • Component Numerator Core Suffix
          mutation analysis limited to known familial mutations
          LP135775-7
      • 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 2.40
Last Updated
Version 2.66 (MAJ)
Change Reason
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 FBN1 mutační analýza omezená na známé familiární mutace:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο FBN1 ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις Γονίδιο Γονίδιο FBN1 Εύρεση Ιστός Μεταλλάξεις Μοριακή γενετική
es-ESSpanish (Spain)Gen FBN1 Análisis de mutaciones limitado al conocimiento de las mutaciones familiares:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutación del gen FBN1 limitado a mutaciones familiares conocidas:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)FBN1 gène mutation recherche limitée aux mutations familiales connues:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)FBN1, gene, analisi di mutazione limitata a mutazioni familiari note:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene FBN1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)FBN1-gen mutatieanalyse gelimiteerd tot bekende familiaire mutaties:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: FBN1 gen molgen
ru-RURussian (Russian Federation)FBN1 ген исследование на мутацию, ограниченный известными семейными мутациями:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)FBN1 geni mutasyon analizi, bilinen ailesel mutasyonlarla sınırlandırılmış:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)FB1 基因 局限于已知家族性突变的突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: FBN;Marfan 综合征（一种常染色体显性遗传的结缔组织疾病,主要由原纤蛋白-1(FBN-1)基因突变引起.目前关于该基因突变导致Marfan综合征机制的研究主要集中在FBN-1基因的多外显子缺失、EGF模序半胱氨酸替代突变、cbEGF模序钙结合点突变、PTC突变、3''末端突变及24～32区突变等方面）;MASS;MFS1;OCTD;SGS;Weill-Marchesani 综合征;Weill-Marchesani 综合征(中胚层营养不良; 先天性中胚叶发育不良性疾病);WMS;肌原纤维蛋白 1 ( 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 受限 受限的 局部的 局限于已知家族性突变的基因突变分析;仅限于已知家族性突变的突变分析 时刻;随机;随意;瞬间 有界的 有限 有限的 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 血;血液 被限制的 遗传基因;遗传因子;吉恩;生物基因 限制的

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