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Part Description

LP33138-6   MEN1 gene
The MEN1 gene (multiple endocrine neoplasia I) [HGNC Gene ID:7010] is located on chromosome 11q13. This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008] [NCBI Gene ID:4221] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
MEN1 gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
MEN1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
Short Name
MEN1 gene Fam Mut Anl Bld/T
Display Name
MEN1 gene familial mut analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
MEN1 gene familial variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    MEN1 gene mutation analysis limited to known familial mutations
    LP228959-5
    • Analyte
      MEN1 gene mutation analysis limited to known familial mutations
      LP228959-5
      • Component Numerator
        MEN1 gene mutation analysis limited to known familial mutations
        LP228959-5
        • Component Numerator Core
          MEN1 gene
          LP33138-6
        • 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 2.50
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 MEN1 mutační analýza omezená na známé familiární mutace:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο MEN1 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 MEN1 Εύρεση Ιστός Μεταλλάξεις Μοριακή γενετική
es-ESSpanish (Spain)Gen Men 1 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 MEN1 limitado a mutaciones familiares conocidas:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)MEN1 gène mutation recherche limitée aux mutations familiales connues:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)MEN1, gene, analisi di mutazione limitata a mutazioni familiari note:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene MEN1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)MEN1-gen mutatieanalyse gelimiteerd tot bekende familiaire mutaties:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: MEN1 gen molgen
pl-PLPolish (Poland)MEN1 gen analiza mutacji ograniczona do znanych rodzinnie występujących mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna Gen MEN1
ru-RURussian (Russian Federation)MEN1 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)MEN1 geni mutasyon analizi, bilinen ailesel mutasyonlarla sınırlandırılmış:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)ME1 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: MEAI;Menin;Menin（一种肿瘤抑制蛋白质, 或者说抑癌蛋白）;Overlapping syndrome;SCG2;Wermer 综合征;Zollinger-Ellison 综合征;卓-艾综合征;卓-艾综合征（主要表现为顽固性消化性溃疡及慢性腹泻）;多内分泌瘤病 1 型;多发性内分泌肿瘤 I 型;多发性内分泌肿瘤 I 型肿瘤抑制蛋白 Menin;多发性内分泌肿瘤Ⅰ型肿瘤抑制蛋白 Menin;多发性内分泌肿瘤形成 I 型;多发性内分泌腺瘤 I 型;多发性内分泌腺瘤Ⅰ型;重叠综合征 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75386-3