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Part Description

LP432139-6   IDH2 gene exon 4
The IDH2 (isocitrate dehydrogenase 2, mitochondrial) gene [HGNC Gene ID:5383] is located on chromosome 15 at 15q26.1. The IDH2 gene encodes the isocitrate dehydrogenase 2 enzyme found in mitochondria and involved in intermediary metabolism and energy production. Mutations in the IDH2 gene 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 enzyme takes on a new, abnormal function.[MedlinePlus Gene:IDH2] Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
IDH2 gene exon 4 targeted mutation analysis:PrThr:Pt:Bld/Bone mar:Ord:Molgen
Long Common Name
IDH2 gene exon 4 targeted mutation analysis [Presence] in Blood or Marrow by Molecular genetics method
Short Name
IDH2 exon 4 Mut Anl Bld/Mar Ql
Display Name
IDH2 gene exon 4 targeted mutation analysis Molgen Ql (Bld/BM)
Consumer Name Alpha Get Info
IDH2 gene exon 4 targeted mutation analysis, Blood Or Bone marrow

Part Model Get Info

  • Component
    IDH2 gene exon 4 targeted mutation analysis
    LP432136-2
    • Analyte
      IDH2 gene exon 4 targeted mutation analysis
      LP432136-2
      • Component Numerator
        IDH2 gene exon 4 targeted mutation analysis
        LP432136-2
        • Component Numerator Core
          IDH2 gene exon 4
          LP432139-6
        • 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
    PrThr
    LP217195-9
  • Time
    Pt
    LP6960-1
  • System
    Bld/Bone mar
    LP7060-9
    • System Core
      Bld/Bone mar
      LP7060-9
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Example Answer List: LL744-4

Source: Regenstrief Institute
AnswerCodeScoreAnswer ID
DetectedLA11882-0
Not detectedLA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.73
Last Updated
Version 2.73 (ADD)
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen IDH2 exon 4 cílená mutační analýza:Přítomnost nebo práh:Časový bod:Krev/kostní dřeň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο IDH2 εξώνιο 4 στοχευμένη ανάλυση μεταλλάξεων:PrThr:Pt:Αίμα/Μυελός των οστών:Ord:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Ord PrThr Pt Αίμα Αίμα/Μυελός των οστών Γονίδιο Γονίδιο IDH2 Γονίδιο IDH2 εξώνιο 4 Μοριακή γενετική Μυελός των οστών Οστό στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Exón 4 del gen IDH2 Analisis de mutaciones:PrThr:Punto temporal:Sangre o Médula osea:Ord:Genética molecular
fr-FRFrench (France)IDH2 gène exon 4 mutation cible trouvée:Présence/Seuil:Ponctuel:Sang/Moelle osseuse:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)IDH2, esone 4 gene analisi di mutazione mirata:PrThr:Pt:Sangue/Mid os:Ord:Molgen
Synonyms: Gene IDH2 Gene IDH2 esone 4 Genetica molecolare Midollo osseo Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Midollo
nl-NLDutch (Netherlands)IDH2-gen exon 4 doelgerichte mutatie-analyse:aanwezigheid:moment:bloed of beenmerg:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen targeted
pl-PLPolish (Poland)IDH2 gen ekson 4 ukierunkowana analiza mutacji:granica wykrywalności:punkt w czasie:krew lub szpik kostny:uporządkowany:genetyka molekularna
Synonyms: Analiza mutacji w eksonie 4 genu IDH2 diagnostyka molekularna Ekson 4 genu IDH2 Gen IDH2
zh-CNChinese (China)IDH2 基因外显子 4 突变分析:存在情况或阈值:时间点:全血/骨髓:序数型:分子遗传学类实验室方法
Synonyms: 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或骨髓;血液/骨髓;血液或骨髓 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 基因突变分析 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因 骨骼;骨头 髓

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100306-0