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Term Description

Sequencing of the entire coding region (full gene sequencing) within the TNFRSF13B gene (also known as TACI gene) is performed to identify mutations or variants in individuals with clinical features such as common variable immunodeficiency (CVID), selective IgA deficiency, lymphoproliferative disease associated with CVID, and autoimmune phenotypes with CVID. The TNFRSF13B gene, located on chromosome 17, consists of 5 exons spanning approximately 35 kb.

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

LP97598-4   TNFRSF13B gene
Tumor necrosis factor receptor superfamily member 13B, also known as TNFRSF13B or more commonly as TACI, is a transmembrane receptor protein found predominantly on the surface of B cells, which are an important part of the immune system. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

LP97598-4   TNFRSF13B gene
The TNFRSF13B gene (tumor necrosis factor receptor superfamily, member 13B) [HGNC Gene ID:18153] is located on chromosome 17p11.2. The protein encoded by this gene, transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] [NCBI Gene ID:23495] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
TNFRSF13B gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing
Long Common Name
TNFRSF13B gene full mutation analysis in Blood or Tissue by Sequencing
Short Name
TNFRSF13B gene Full Mut Anl Bld/T Seq
Display Name
TNFRSF13B gene full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
TNFRSF13B gene variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    TNFRSF13B gene full mutation analysis
    LP229814-1
    • Analyte
      TNFRSF13B gene full mutation analysis
      LP229814-1
      • Component Numerator
        TNFRSF13B gene full mutation analysis
        LP229814-1
        • Component Numerator Core
          TNFRSF13B gene
          LP97598-4
        • Component Numerator Core Suffix
          full mutation analysis
          LP150044-8
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Sequencing
    LP150045-5

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 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

TagLanguageTranslation
cs-CZCzech (Czechia)Gen TNFRSF13B kompletní mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Sekvenace
el-GRGreek (Greece)Γονίδιο TNFRSF13B πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο TNFRSF13B Εύρεση Ιστός πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen TNFRSF13B Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MXSpanish (Mexico)Análisis de mutación completa del gen TNFRSF13B:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FRFrench (France)TNFRSF13B gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-ITItalian (Italy)TNFRSF13B, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Gene TNFRSF13B Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)TNFRSF13B-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
Synonyms: TNFRSF13B gen
pl-PLPolish (Poland)TNFRSF13B gen pełna analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:sekwencjonowanie
Synonyms: Gen TNFRSF13B
tr-TRTurkish (Turkey)TNFRSF13B geni tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CNChinese (China)TNFRSF13B 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: Taci;1200009E08Rik;tumor necrosis factor receptor superfamily, member 13b;肿瘤坏死因子受体超家族, 成员 13b 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=69487-7