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Part Description

LP432138-8   IDH1 gene exon 4
The IDH1 (isocitrate dehydrogenase 1, cytosolic) gene [HGNC Gene ID:5382] is located on chromosome 2 at 2q34. The IDH1 gene encodes the isocitrate dehydrogenase 1 enzyme, which is primarily found in cytoplasm of cells as well as in peroxisomes. Mutations in the IDH1 gene are associated with various conditions, including Maffucci syndrome, Ollier disease, cholangiocarcinoma, acute myeloid leukemia, myelofibrosis, gliomas, and chondrosarcomas. 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:IDH1] Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
IDH1 gene exon 4 targeted mutation analysis:PrThr:Pt:Bld/Bone mar:Ord:Molgen
Long Common Name
IDH1 gene exon 4 targeted mutation analysis [Presence] in Blood or Marrow by Molecular genetics method
Short Name
IDH1 exon 4 Mut Anl Bld/Mar Ql
Display Name
IDH1 gene exon 4 targeted mutation analysis Molgen Ql (Bld/BM)
Consumer Name Alpha Get Info
IDH1 gene exon 4 targeted mutation analysis, Blood Or Bone marrow

Part Model Get Info

  • Component
    IDH1 gene exon 4 targeted mutation analysis
    LP432135-4
    • Analyte
      IDH1 gene exon 4 targeted mutation analysis
      LP432135-4
      • Component Numerator
        IDH1 gene exon 4 targeted mutation analysis
        LP432135-4
        • Component Numerator Core
          IDH1 gene exon 4
          LP432138-8
        • 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
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen IDH1 exon 4 cílená mutační analýza:Přítomnost nebo práh:Časový bod:Krev/kostní dřeň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο IDH1 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 IDH1 Γονίδιο IDH1 εξώνιο 4 Μοριακή γενετική Μυελός των οστών Οστό στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Exón 4 del gen IDH1 Analisis de mutaciones:PrThr:Punto temporal:Sangre o Médula osea:Ord:Genética molecular
fr-FRFrench (France)IDH1 gène exon 4 mutation cible trouvée:Présence/Seuil:Ponctuel:Sang/Moelle osseuse:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)IDH1, esone 4 gene analisi di mutazione mirata:PrThr:Pt:Sangue/Mid os:Ord:Molgen
Synonyms: Gene IDH1 Gene IDH1 esone 4 Genetica molecolare Midollo osseo Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Midollo
nl-NLDutch (Netherlands)IDH1-gen exon 4 doelgerichte mutatie-analyse:aanwezigheid:moment:bloed of beenmerg:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen targeted
pl-PLPolish (Poland)IDH1 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 IDH1 diagnostyka molekularna Ekson 4 genu IDH1 Gen IDH1
zh-CNChinese (China)IDH1 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=100305-2