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Part Description

LP99579-2   F12 gene
The F12 gene (coagulation factor XII (Hageman factor)) [HGNC Gene ID:3530] is located on chromosome 5q35.3. This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2161] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
F12 gene targeted mutation analysis:Type:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
F12 gene mutations found [Type] in Blood or Tissue by Molecular genetics method
Short Name
F12 gene Mut Anl Bld/T
Display Name
F12 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
F12 gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    F12 gene targeted mutation analysis
    LP228389-5
    • Analyte
      F12 gene targeted mutation analysis
      LP228389-5
      • Component Numerator
        F12 gene targeted mutation analysis
        LP228389-5
        • Component Numerator Core
          F12 gene
          LP99579-2
        • 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
    Type
    LP6886-8
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.32
Last Updated
Version 2.63 (MIN)
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen F12 cílená mutační analýza:Typ:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο F12 στοχευμένη ανάλυση μεταλλάξεων:Type:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Pt Type Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο F12 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen F12 Analisis de mutaciones:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen F12:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)F12 gène mutation cible trouvée:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)F12, gene analisi di mutazione mirata:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene F12 Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)F12-gen doelgerichte mutatie-analyse:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: f12 gen molgen targeted
pl-PLPolish (Poland)F12 gen ukierunkowana analiza mutacji:typ:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu F12 diagnostyka molekularna Gen F12 wynik kategorialny
ru-RURussian (Russian Federation)F12 ген исследование на мутацию:Тип:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)F12 geni Mutasyon analizi:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CNChinese (China)F12 基因 突变分析:类型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HAE3;HAEX;HAF;HAEX;HAF;Hageman factor;coagulation factor XII;coagulation factor XII (Hageman factor);哈格曼因子;凝血因子 XII;HF;接触因子 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 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 型 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=58937-4