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

LP33150-1   GJB2 gene
The GJB2 gene (gap junction protein, beta 2, 26kDa) [HGNC Gene ID:4284] is located on chromosome 13q11-q12. This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008] [NCBI Gene ID:2706] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
GJB2 gene full mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Sequencing

Additional Names

Long Common Name
GJB2 gene full mutation analysis in Blood or Tissue by Sequencing
Short Name
GJB2 gene Full Mut Anl Bld/T Seq
Display Name
GJB2 gene full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
GJB2 gene variant analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
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 GJB2 πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Γονίδιο Γονίδιο GJB2 Εύρεση
es-ES Spanish (Spain) Gen GJB2 Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MX Spanish (Mexico) Análisis de mutación completo del gen GJB2:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FR French (France) GJB2 gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-IT Italian (Italy) GJB2, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Gene GJB2 Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) GJB2-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
Synonyms: GJB2 gen
tr-TR Turkish (Turkey) GJB2 geni tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CN Chinese (China) GJB2 基因 全面突变分析:发现:时间点:全血/组织:文档型:序列测定
Synonyms: Connexin 26;Cx26;DFNA3;DFNB1;HID;KID;NSRD1;PPK;缝管连接蛋白 26;缝隙连接 Beta-2 蛋白基因;耳聋, 常染色体显性 1;耳聋, 常染色体显性 3;连接蛋白 26;间隙连接蛋白 26;间隙链接β-2 蛋白基因 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 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 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

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=90851-7