Version 2.80

Term Description

This profile evaluates for hereditary (congenital) causes of dyserythropoietic anemia

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
Dyserythropoietic anemia multigene analysis
Property
Find
Time
Pt
System
XXX
Scale
Doc
Method
Sequencing

Additional Names

Long Common Name
Dyserythropoietic anemia multigene analysis in Specimen by Sequencing
Short Name
Dyserythropoietic anemia multi Spec Seq
Display Name
Dyserythropoietic anemia multigene analysis Sequencing Doc (Specimen)
Consumer Name Alpha Get Info
Dyserythropoietic anemia multigene analysis, Specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.77 (ADD)
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Πολυγονιδιακή ανάλυση της δυσερυθροποιητικής αναιμίας:Εύρεση:Pt:XXX:Doc:Αλληλούχιση
Synonyms: Εύρεση
es-ES Spanish (Spain) Análisis multigénico de la anemia diseritropoyética.:Hallazgo:Punto temporal:XXX:Doc:Secuenciación
fr-FR French (France) Analyse multigénique d'une anémie dysérythropoïétique:Recherche:Ponctuel:Milieux divers:Document:Séquençage
it-IT Italian (Italy) Analisi multigenica dell'anemia diseritropoietica:Osservazione:Pt:XXX:Doc:Sequenziamento
Synonyms: Osservazione Patologia molecolare Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) multigen-analyse van dyserytropoëtische anemie:bevinding:moment:XXX:document:sequencing
Synonyms: CDA
zh-CN Chinese (China) 红细胞生成异常性贫血多基因分析:发现:时间点:XXX:文档型:序列测定
Synonyms: 不明的;其他;将在相应消息内其他部分之中加以详细说明;未作详细说明的;未作说明的;未做说明的标本;未加规定的;未加说明的标本;杂项 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 贫血症

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=103734-0