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Part Description

LP420043-4   IDH1 gene & IDH2 gene
IDH1 [HGNC Gene ID: 5382] and IDH2 [HGNC Gene ID:5383] genes encode the isocitrate dehydrogenase 1 & 2 enzymes, respectively. The isocitrate dehydrogenase 1 enzyme is primarily found in cytoplasm of cells as well as in peroxisomes. The isocitrate dehydrogenase 2 enzyme is primarily found in mitochondria and involved in intermediary metabolism and energy production. Mutations in the IDH1 & IDH2 genes are associated with various conditions, including 2-hydroxyglutaric aciduria, Maffucci syndrome, Ollier disease, cholangiocarcinoma, acute myeloid leukemia, myelofibrosis, and gliomas. The mutations associated with Maffucci syndrome, Ollier disease, and other cancer-related conditions are somatic gain-of-function mutations in which the enzymes take on a new, abnormal function.[MedlinePlus Gene:IDH1][MedlinePlus Gene:IDH2] Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
IDH1 gene & IDH2 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
IDH1 and IDH2 genes targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
IDH1 + IDH2 Mut Anl Bld/T
Display Name
IDH1 and IDH2 genes targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
IDH1 and IDH2 genes targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    IDH1 gene & IDH2 gene targeted mutation analysis
    LP420044-2
    • Analyte
      IDH1 gene & IDH2 gene targeted mutation analysis
      LP420044-2
      • Component Numerator
        IDH1 gene & IDH2 gene targeted mutation analysis
        LP420044-2
        • Component Numerator Core
          IDH1 gene & IDH2 gene
          LP420043-4
        • 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
Type
Laboratory
First Released
Version 2.69
Last Updated
Version 2.69 (ADD)
Change Reason
Release 2.77: COMPONENT: 2/2/24 component revision error - revised back to its original;
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen IDH1 a IDH2 cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο IDH1 & γονίδιο IDH2 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο IDH1 Γονίδιο IDH1 & γονίδιο IDH2 Γονίδιο IDH2 Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen IDH1 y al gen IDH2:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
es-ESSpanish (Spain)Genes IDH1 e IDH2 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
fr-FRFrench (France)IDH1 gène et IDH2 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)IDH1, gene & IDH2, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene IDH1 Gene IDH2 Genetica molecolare Geni IDH1 e IDH2 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)IDH1-gen & IDH2-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen targeted
pl-PLPolish (Poland)IDH1 gen & IDH2 gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza mutacji genów IDH1 i IDH2 Analiza mutacji genu IDH2 diagnostyka molekularna Gen IDH1 Gen IDH2
zh-CNChinese (China)IDH1 基因 & IDH2 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: 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;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 异柠檬酸脱氢酶 1 与异柠檬酸脱氢酶 2;IDH1 基因与 IDH2 基因;Isocitrate Dehydrogenase (NADP (+)) 1 & Isocitrate Dehydrogenase (NADP (+)) 2 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=95772-0