Version 2.77

Term Description

Whole mRNA transcriptome analysis by sequencing (RNA-Seq) is performed to determine what effect, if any, variants of unknown significance (VUS) may have on gene expression under specific circumstances or in a specific cell. Effect on the transcripts include a splice site defect, an inclusion of a pseudo-exon, exclusion of a real exon or loss of expression of the gene. Whole RNA transcriptome analysis is used in cancer diagnostics as well as other conditions to assess the functional impact of a variant on gene expression. While RNA-Seq studies looks at RNA transcribed from (mostly) exonic regions of DNA, whole exome sequencing studies [LOINC: 86205-2] look directly at the DNA contained in exonic regions of the genome. This term was created for, but not limited in use to, the submitter's MNG Whole Transcriptome assay, which is used to assess all genes in mRNA that are expressed in the specimen and identify changes that could be associated with the patient's clinical presentation. It is recommended that RNA-Seq assays are performed in the context of DNA sequencing results since some variants may not be detected in RNA.
Source: Regenstrief LOINC

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
Whole mRNA transcriptome sequence analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Sequencing

Additional Names

Short Name
Whole mRNA Seq Analysis Bld/T Seq
Display Name
Whole mRNA Transcriptome Sequence Analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
Whole mRNA transcriptome sequence analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Análisis de la secuencia del transcriptoma de ARNm completo:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MX Spanish (Mexico) Análisis de la secuencia del transcriptoma de ARNm completo:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FR French (France) Séquence transcriptome totalité ARNm:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-IT Italian (Italy) Analisi intera sequenza trascrittoma mRNA:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) sequentie-analyse van geheel mRNA-transcriptoom:bevinding:moment:bloed of weefsel:document:sequencing
zh-CN Chinese (China) 全 mRNA 转录物组序列分析: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（完整） mRNA 转录物组（转录组、转录[物]组）序列分析 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 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 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94820-8