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Term Description

Full gene sequence analysis of the gamma globin genes, HBG1 and HBG2, is performed to assess for variants causing conditions such as neonatal hemolytic anemia, cyanosis, methemoglobinemia, and nondeletional hereditary persistence of fetal hemoglobin (HPFH). Testing is useful to characterize abnormal hemoglobins identified by electrophoresis and suspected to be due to gamma chain variants. This code is used for the test order and to represent the overall report, which may include the variant(s) found, testing method, interpretation, recommendations and references.

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

LOINC Names Get Info

Fully-Specified Name
HBG1 gene & HBG2 gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing
Long Common Name
HBG1 and HBG2 genes full mutation analysis in Blood or Tissue by Sequencing
Short Name
HBG1 + HBG2 Full Mut Anl Bld/T Seq
Display Name
HBG1 and HBG2 genes full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
HBG1 and HBG2 genes variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    HBG1 gene & HBG2 gene full mutation analysis
    LP420799-1
    • Analyte
      HBG1 gene & HBG2 gene full mutation analysis
      LP420799-1
      • Component Numerator
        HBG1 gene & HBG2 gene full mutation analysis
        LP420799-1
        • Component Numerator Core
          HBG1 gene & HBG2 gene
          LP420116-8
        • 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
Type
Laboratory
First Released
Version 2.69
Last Updated
Version 2.73 (MIN)
Order vs. Observation
Both
Common Test Rank Get Info
9298

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen HBG1 & HBG2 kompletní mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Sekvenace
el-GRGreek (Greece)Γονίδιο HBG1 & γονίδιο HBG2 πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο HBG1 & γονίδιο HBG2 Εύρεση Ιστός πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Genes HBG1 y HBG2 Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MXSpanish (Mexico)Análisis de mutación completo del gen HBG1 y del gen HBG2:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FRFrench (France)HBG1 gène et HBG2 gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-ITItalian (Italy)HBG1,gene & HBG2, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Geni HBG1 e HBG2 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)HBG1-gen & HBG2-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
pl-PLPolish (Poland)HBG1 gen & HBG2 gen pełna analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:sekwencjonowanie
Synonyms: Geny HBG1 i HBG2
zh-CNChinese (China)HBG1 基因与 HBG2 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: 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;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 珠蛋白（血球蛋白、球朊）亚基（亚单位） Gamma 1 基因与珠蛋白（血球蛋白、球朊）亚基（亚单位） Gamma 2 基因;珠蛋白 Gamma 1 亚基（γ1亚基）基因与珠蛋白 Gamma 2 亚基（γ2亚基）基因;Hemoglobin Subunit Gamma 1 gene and Hemoglobin Subunit Gamma 2 gene 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=95795-1