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Part Descriptions

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

LOINC Names Get Info

Fully-Specified Name
HBB gene deletion+duplication:Find:Pt:Bld/Tiss:Doc:MLPA
Long Common Name
HBB gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
Short Name
HBB gene Del+Dup Bld/T MLPA
Display Name
HBB gene del and dup mutation analysis MLPA Doc (Bld/Tiss)
Consumer Name Alpha Get Info
HBB gene deletion/duplication analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    HBB gene deletion+duplication
    LP434416-6
    • Analyte
      HBB gene deletion+duplication
      LP434416-6
      • Component Numerator
        HBB gene deletion+duplication
        LP434416-6
        • Component Numerator Core
          HBB gene
          LP19719-1
        • Component Numerator Core Suffix
          deletion+duplication
          LP136317-7
      • 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
    MLPA
    LP147267-1

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.75
Last Updated
Version 2.75 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen HBB delece a duplikace:Nález:Časový bod:Krev/tkáň:Dokument:Multiplexní na ligaci závislá PCR reakce (MPLA)
el-GRGreek (Greece)Γονίδιο HBB διαγραφή+διπλασιασμός:Εύρεση:Pt:Αίμα/Ιστός:Doc:MLPA
Synonyms: Doc MLPA MOLPATH MOLPATH.DELDUP Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο HBB διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Εύρεση Ιστός
es-ESSpanish (Spain)Gen HBB Delección+duplicación:Hallazgo:Punto temporal:Sangre o tejido:Doc:MLPA
fr-FRFrench (France)HBB gène délétion+duplication:Recherche:Ponctuel:Sang/Tissu:Document:MLPA
it-ITItalian (Italy)HBB, gene Delezione+duplicazione:Osservazione:Pt:Sangue/Tess:Doc:MLPA
Synonyms: Amplificazione legatura-dipendente multipla della delezione e duplicazione Delezione o duplicazione genica Gene HBB Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
pl-PLPolish (Poland)HBB gen delecja+duplikacja:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:MLPA
Synonyms: Gen HBB;Gen podjednostki beta hemoglobiny
tr-TRTurkish (Turkey)HBB geni delesyon+duplikasyon:Bulgu:Zmlı:Kan/Dk:Dokm:MLPA
Synonyms: çiftleme
zh-CNChinese (China)HBB 基因 缺失+重复:发现:时间点:全血/组织:文档型:多重连接探针扩增技术
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 multiplex ligation-dependent probe amplification;MLPA;多重连接探针扩增;多重连接酶依赖的探针扩增技术;多重连接依赖型探针扩增技术 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 基因复制;基因重复;重复 基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 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=101634-4