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Part Description

LP281415-2   F8 gene intron 22 inversion
Inversions in either intron 1 or intron 22 in the F8 gene together account for 45-50% of mutations associated with severe hemophilia A (HA) in males. PMID: 18284600 These inversions are typically not identified in patients with mild or moderate HA. When an inversion mutation is identified in a family, males affected with severe hemophilia A in the same family may be tested for the mutation. At-risk females also may be tested to determine their hemophilia A carrier status. Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
F8 gene intron 22 inversion targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
F8 gene intron 22 inversion targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
F8 intron 22 Inv Mut Anl Bld/T
Display Name
F8 gene intron 22 inversion targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
F8 gene intron 22 inversion targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    F8 gene intron 22 inversion targeted mutation analysis
    LP281414-5
    • Analyte
      F8 gene intron 22 inversion targeted mutation analysis
      LP281414-5
      • Component Numerator
        F8 gene intron 22 inversion targeted mutation analysis
        LP281414-5
        • Component Numerator Core
          F8 gene intron 22 inversion
          LP281415-2
        • Component Numerator Core Suffix
          targeted mutation analysis
          LP32419-1
      • 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
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.INV
Type
Laboratory
First Released
Version 2.66
Last Updated
Version 2.66 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen F8 intron 22 inverze cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Αντιστροφή ιντρονίου 22 γονιδίου F8 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.INV Pt Αίμα Αίμα/Ιστός Αντιστροφή ιντρονίου 22 γονιδίου F8 Γονίδιο Γονίδιο F8 Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Inversión del intrón 22 del gen F8 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutación dirigida por inversión del intrón 22 del gen F8:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)F8 gène intron 22 inversion mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)F8 introne 22 inversione, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene F8 Gene F8 introne 22 inversione Genetica molecolare Inversione genetica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
pl-PLPolish (Poland)F8 gen intron 22 inwersja ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna Gen F8;Gen czynnika VIII Inwersja w intronie 22 genu F8
zh-CNChinese (China)F8 基因内含子 22 倒位 突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: DXS1253E;F8B;F8C;FVIII 基因;HEMA;促凝成分;促凝血成分;典型性血友病;凝血因子 8 基因;凝血因子 VIII;凝血因子 VIII 基因;凝血因子8;凝血因子Ⅷ;凝血因子Ⅷ基因;因子 8 基因;因子 VIII;因子 VIII 基因;因子8;因子Ⅷ;因子Ⅷ基因;经典型血友病;经典血友病;血友病;血友病 A 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 凝血因子 VIII;Coagulation Factor VIII;F8 分子病理学.基因倒位;分子病理学试验.基因倒位;分子病理学试验类.倒位 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 基因突变分析 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=91679-1