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Part Description

LP34969-3   F9 gene
The F9 gene (coagulation factor IX) [HGNC Gene ID:3551] is located on chromosome Xq27.1-q27.2. This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2158] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
F9 gene mutation analysis limited to known familial mutations:Find:Pt:Amnio fld/CVS:Doc:Molgen
Long Common Name
F9 gene mutation analysis limited to known familial mutations in Amniotic fluid or Chorionic villus sample by Molecular genetics method
Short Name
F9 gene Fam Mut Anl Amn/CVS
Display Name
F9 gene familial mut analysis Molgen Doc (Amnio fld/CVS)
Consumer Name Alpha Get Info
F9 gene familial variant analysis, Amnio Fld/CVS

Part Model Get Info

  • Component
    F9 gene mutation analysis limited to known familial mutations
    LP228400-0
    • Analyte
      F9 gene mutation analysis limited to known familial mutations
      LP228400-0
      • Component Numerator
        F9 gene mutation analysis limited to known familial mutations
        LP228400-0
        • Component Numerator Core
          F9 gene
          LP34969-3
        • Component Numerator Core Suffix
          mutation analysis limited to known familial mutations
          LP135775-7
      • 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
    Amnio fld/CVS
    LP185743-4
    • System Core
      Amnio fld/CVS
      LP185743-4
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
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 F9 mutační analýza omezená na známé familiární mutace:Nález:Časový bod:Amniová tekutina/choriový klk:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο F9 ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις:Εύρεση:Pt:Αμνιακό υγρό/ΕΝΥ:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αμνιακό υγρό Αμνιακό υγρό/ΕΝΥ ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις Βιοψία χοριακής λάχνης Γονίδιο Γονίδιο F9 Εύρεση Μεταλλάξεις Μοριακή γενετική
es-ESSpanish (Spain)Gen F9 Análisis de mutaciones limitado al conocimiento de las mutaciones familiares:Hallazgo:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutación del gen F9 limitado a mutaciones familiares conocidas:Hallazgo:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Documento:Genética molecular
fr-FRFrench (France)F9 gène mutation recherche limitée aux mutations familiales connues:Recherche:Ponctuel:Liquide amniotique/Villosités choriales:Document:Biologie moléculaire
it-ITItalian (Italy)F9, gene, analisi di mutazione limitata a mutazioni familiari note:Osservazione:Pt:Liquido amniotico/Villi coriali, prelievo:Doc:Molgen
Synonyms: Campione di villi coriali Gene F9 Genetica molecolare Liquido amniotico Mutazione genica Osservazione Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio)
pl-PLPolish (Poland)F9 gen analiza mutacji ograniczona do znanych rodzinnie występujących mutacji:stwierdzenie:punkt w czasie:próbka płynu owodniowego lub kosmka kosmówki:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna Gen F9
tr-TRTurkish (Turkey)F9 geni mutasyon analizi, bilinen ailesel mutasyonlarla sınırlandırılmış:Bulgu:Zmlı:Amnio sv/CVS:Dokm:Molgen
Synonyms: Amniyon mayii
zh-CNChinese (China)F9 基因 局限于已知家族性突变的突变分析:发现:时间点:羊水/绒毛膜绒毛样本:文档型:分子遗传学类实验室方法
Synonyms: Christmas 因子;FIX;HEMB;PTC;凝血因子 9 基因;凝血因子 IX;凝血因子 IX 基因;凝血因子9;凝血因子Ⅸ;凝血因子Ⅸ基因;圣诞因子;圣诞病因子;圣诞节因子;科立斯因子 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 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 受限 受限的 局部的 局限于已知家族性突变的基因突变分析;仅限于已知家族性突变的突变分析 时刻;随机;随意;瞬间 有界的 有限 有限的 突变 突变类;基因突变 绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本 羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS） 羊膜水;胎水 被限制的 遗传基因;遗传因子;吉恩;生物基因 限制的

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=91681-7