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Part Description

LP33555-1   FMR1 gene
The FMR1 gene (fragile X mental retardation 1) [HGNC Gene ID:3775] is located on chromosome Xq27.3. The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010] [NCBI Gene ID:2332] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
FMR1 gene targeted mutation analysis:Find:Pt:Amnio fld:Doc:Molgen
Long Common Name
FMR1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics method
Short Name
FMR1 gene Mut Anl Amn
Display Name
FMR1 gene targeted mutation analysis Molgen Doc (Amn fld)
Consumer Name Alpha Get Info
FMR1 gene targeted mutation analysis, Amniotic fluid

Part Model Get Info

  • Component
    FMR1 gene targeted mutation analysis
    LP228456-2
    • Analyte
      FMR1 gene targeted mutation analysis
      LP228456-2
      • Component Numerator
        FMR1 gene targeted mutation analysis
        LP228456-2
        • Component Numerator Core
          FMR1 gene
          LP33555-1
        • 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
    Amnio fld
    LP7000-5
    • System Core
      Amnio fld
      LP7000-5
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.17
Last Updated
Version 2.73 (MIN)
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
Common Test Rank Get Info
11254

Member of these Panels

LOINCLong Common Name
54037-7HEDIS 2009 panel
57820-3HEDIS 2010 panel
60442-1HEDIS 2011 panel
67767-4HEDIS 2012 panel
72199-3HEDIS 2013 panel
74234-6HEDIS 2014 Value Sets

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen FMR1 cílená mutační analýza:Nález:Časový bod:Amniová tekutina:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο FMR1 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αμνιακό υγρό:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αμνιακό υγρό Γονίδιο Γονίδιο FMR1 Εύρεση Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen FMR1 Analisis de mutaciones:Hallazgo:Punto temporal:Fluido Ammiótico:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen FMR1:Hallazgo:Punto temporal:Líquido amniótico:Documento:Genética molecular
fr-CAFrench (Canada)Gène FMR1 ciblé, analyse de la mutation:Observation:Temps ponctuel:Liquide amniotique:Document:Molgen
fr-FRFrench (France)FMR1 gène mutation cible trouvée:Recherche:Ponctuel:Liquide amniotique:Document:Biologie moléculaire
it-ITItalian (Italy)FMR1, gene analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico:Doc:Molgen
Synonyms: Gene FMR1 Genetica molecolare Liquido amniotico Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio)
nl-NLDutch (Netherlands)FMR1-gen doelgerichte mutatie-analyse:bevinding:moment:vruchtwater:document:moleculair genetisch onderzoek
Synonyms: FMR1 gen molgen targeted
pl-PLPolish (Poland)FMR1 gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:płyn owodniowy:dokument:genetyka molekularna
Synonyms: Analiza mutacji genu FMR1 diagnostyka molekularna Gen FMR1;Gen zespołu łamliwego chromosomu X
pt-BRPortuguese (Brazil)FMR1 análise de mutação genética:Ident:Pt:LiqAmni:Nar:Genética molecular
Synonyms: Fragile X syndrome; Fragile X mental retardation 1; FRAXA; Identity or presence; Point in time; Random; Amn; Amniotic fluid; Amn fl; Amniotic flu; AF; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)FMR1 ген исследование на мутацию:Находка:ТчкВрм:Амниотич ждк:Док:МолГен
Synonyms: Амниотическая жидкость Документ Точка во времени;Момент
tr-TRTurkish (Turkey)FMR1 geni Mutasyon analizi:Bulgu:Zmlı:Amniyon sv:Dokm:Molgen
Synonyms: Amniyon mayii
zh-CNChinese (China)FMR1 基因 突变分析:发现:时间点:羊水:文档型:分子遗传学类实验室方法
Synonyms: 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 羊膜水;胎水 脆性 X;脆性 X 智力低下 1;脆性 X 智力缺陷 1;脆性 X 智力迟钝 1;脆性 X 染色体综合征;脆性 X 综合征;脆性 X 综合征智力低下基因 1 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=45327-4