Version 2.80

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

Fully-Specified Name

Component
IDH1 gene & IDH2 gene targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

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

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

Tag Language Translation
el-GR Greek (Greece) Γονίδιο IDH1 & γονίδιο IDH2 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Γονίδιο Γονίδιο IDH1 Γονίδιο IDH1 & γονίδιο IDH2 Γονίδιο IDH2 Εύρεση
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen IDH1 y al gen IDH2:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
es-ES Spanish (Spain) Genes IDH1 e IDH2 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
fr-FR French (France) IDH1 et IDH2 gènes mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (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-NL Dutch (Netherlands) IDH1-gen & IDH2-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen targeted
zh-CN Chinese (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