Log In

Part Descriptions

LP184363-2   SERPING1 gene
Mutations in the SERPING1 gene causes deficiency of the C1 inhibitor (C1Inh) protein which leads to hereditary angioedema (HAE types I and II), a rare, life-threatening disease causing spontaneous edema of the submucosal layers with symptoms of swelling due to leakage of fluid from blood vessels into connective tissue. PMID: 21864911, PMID: 18220146 Missense, frameshift, splicing defects, and large deletion mutations have been identified in families with HAE. PMID: 21864911 Source: Regenstrief LOINC

LP184363-2   SERPING1 gene
The SERPING1 gene (serpin peptidase inhibitor, clade G (C1 inhibitor), member 1) [HGNC Gene ID:1228] is located on chromosome 11q12.1. This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, Jul 2008] [NCBI Gene ID:710] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
SERPING1 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
SERPING1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
SERPING1 Mut Anl Bld/T
Display Name
SERPING1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
SERPING1 gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    SERPING1 gene targeted mutation analysis
    LP229592-3
    • Analyte
      SERPING1 gene targeted mutation analysis
      LP229592-3
      • Component Numerator
        SERPING1 gene targeted mutation analysis
        LP229592-3
        • Component Numerator Core
          SERPING1 gene
          LP184363-2
        • 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 2.50
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 SERPING1 cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο SERPING1 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο SERPING1 Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen SERPING1 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutación dirigida al gen SERPING1:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)SERPING1 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)SERPING1, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene SERPING1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)SERPING1-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen SERPING1 gen targeted
pl-PLPolish (Poland)SERPING1 gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza mutacji genu SERPINE1 diagnostyka molekularna Gen SERPING1
tr-TRTurkish (Turkey)SERPING1 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)SERPING1 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: 丝氨酸蛋白酶抑制剂肽酶抑制因子, 进化枝 G (C1 抑制剂), 成员 1;丝氨酸蛋白酶抑制因子肽酶抑制因子, 进化枝 G (C1 抑制剂), 成员 1;丝氨酸蛋白酶抑制物肽酶抑制因子, 进化枝 G (C1 抑制剂), 成员 1;丝氨酸蛋白激酶抑制物肽酶抑制因子, 进化枝 G (C1 抑制剂), 成员 1;C1-抑制剂;C1 抑制剂;C1 酯酶抑制剂;serpin peptidase inhibitor, clade G (C1 inhibitor), member 1;C1-inhibitor;C1-i 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=75380-6