Version 2.80

Part Description

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

Fully-Specified Name

Component
PDGFRA gene exon 18 targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Sequencing

Additional Names

Long Common Name
PDGFRA gene exon 18 targeted mutation analysis in Blood or Tissue by Sequencing
Short Name
PDGFRA exon 18 Mut Anl Bld/T Seq
Display Name
PDGFRA gene exon 18 targeted mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
PDGFRA gene Exon 18 targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.40
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

Tag Language Translation
el-GR Greek (Greece) Γονίδιο PDGFRA εξώνιο 18 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Γονίδιο Γονίδιο PDGFRA Γονίδιο PDGFRA εξώνιο 18 Εύρεση
es-ES Spanish (Spain) Exon 18 del gen PDGFRA Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MX Spanish (Mexico) Análisis de mutación dirigida al exón 18 del gen PDGFRA:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FR French (France) PDGFRA gène exon 18 mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-IT Italian (Italy) PDGFRA, esone 18 gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Esone 18 di gene PDGFRA Gene PDGFRA Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) PDGFRA-gen exon 18 doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
Synonyms: targeted
pt-BR Portuguese (Brazil) PDGFRA gene exon 18 análise de mutação:Ident:Pt:Sg/Tecido:Nar:Sequenciamento
tr-TR Turkish (Turkey) PDGFRA geni ekzon 18 Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CN Chinese (China) PDGFRA 基因外显子 18 突变分析:发现:时间点:全血/组织:文档型:序列测定
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.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 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 序列分析;测序 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 血小板衍生生长因子受体;血小板源生长因子受体;Platelet-derived growth factor receptor;PDGFRr;PDGF 受体 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=71357-8