Version 2.80

Part Descriptions

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

LP19719-1   HBB gene
Hemoglobin Beta locus (HBB) gene mutation analysis for carrier status determination and diagnosis in hemoglobin S and C disease. Source: Regenstrief Institute

LP19719-1   HBB gene
The HBB gene (hemoglobin, beta) [HGNC Gene ID:4827] is located on chromosome 11p15.5. The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3043] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
HBB gene full mutation analysis
Property
Find
Time
Pt
System
Amnio fld/CVS
Scale
Doc
Method
Sequencing

Additional Names

Long Common Name
HBB gene full mutation analysis in Amniotic fluid or Chorionic villus sample by Sequencing
Short Name
HBB gene Full Mut Anl Amn/CVS Seq
Display Name
HBB gene full mutation analysis Sequencing Doc (Amnio fld/CVS)
Consumer Name Alpha Get Info
HBB gene variant analysis, Amnio Fld/CVS

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.65
Last Updated
Version 2.65 (ADD)
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο HBB πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αμνιακό υγρό/ΕΝΥ:Doc:Αλληλούχιση
Synonyms: Γονίδιο Γονίδιο HBB Εύρεση
es-ES Spanish (Spain) Gen HBB Análisis de mutación completa:Hallazgo:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Doc:Secuenciación
es-MX Spanish (Mexico) Análisis de mutación completa del gen HBB:Hallazgo:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Documento:Secuenciación
fr-FR French (France) HBB gène analyse complète des mutations:Recherche:Ponctuel:Liquide amniotique/Villosités choriales:Document:Séquençage
it-IT Italian (Italy) HBB, gene Analisi di mutazione completa:Osservazione:Pt:Liquido amniotico/Villi coriali, prelievo:Doc:Sequenziamento
Synonyms: Campione di villi coriali Gene HBB Liquido amniotico Osservazione Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio)
tr-TR Turkish (Turkey) HBB geni tam mutasyon analizi:Bulgu:Zmlı:Amnio sv/CVS:Dokm:Sekanslama
Synonyms: Amniyon mayii Dizi tayini
zh-CN Chinese (China) HBB 基因 全面突变分析:发现:时间点:羊水/绒毛膜绒毛样本:文档型:序列测定
Synonyms: Beta 球蛋白基因;β球蛋白基因;德雷斯巴赫氏贫血;血红蛋白 beta 链;血红蛋白 S 基因;血红蛋白 β链;镰刀形红细胞病;镰刀形红细胞贫血病;镰状细胞性贫血;镰状细胞血症;镰状血球贫血;黑里克氏贫血 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 完整突变分析;综合突变分析 序列分析;测序 时刻;随机;随意;瞬间 绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本 羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS） 羊膜水;胎水 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=90925-9