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Term Description

This test detects pathogenic alterations within the F13A1 and F13B genes to delineate the underlying molecular defect in a patient with a laboratory diagnosis of factor XIII deficiency.

Part Descriptions

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

LP344997-4   F13A1 gene & F13B gene
The F13A1 and F13B genes encode for the 2 subunits of coagulation factor 13, FXIII-A and FXIII-B, which form a heterotetramer zymogen that is activated by thrombin. Mutations in either gene can result in a bleeding disorder known as factor XIII deficiency, with more severe cases (umbilican cord bleeding at birth, CNS hemorrhage, etc.) due to mutations in both copies of the F13A1 gene, with mutations in the F13B gene and/or heterozygous genotypes resulting in more mild disease. PMID: 24401950. Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
F13A1 gene & F13B gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing
Long Common Name
F13A1 and F13B gene full mutation analysis in Blood or Tissue by Sequencing
Short Name
F13A1 + F13B Full Mut Anl Bld/T Seq
Display Name
F13A1 and F13B gene full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
F13A1 and F13B gene variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    F13A1 gene & F13B gene full mutation analysis
    LP344996-6
    • Analyte
      F13A1 gene & F13B gene full mutation analysis
      LP344996-6
      • Component Numerator
        F13A1 gene & F13B gene full mutation analysis
        LP344996-6
        • Component Numerator Core
          F13A1 gene & F13B gene
          LP344997-4
        • 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 2.66
Last Updated
Version 2.66 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen F13A1 a F13B kompletní mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Sekvenace
el-GRGreek (Greece)Γονίδιο F13A1 & γονίδιο F13B πλήρης ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Doc MOLPATH Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο F13A1 & γονίδιο F13B Εύρεση Ιστός πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Genes F13A1 y F13B Análisis de mutación completa:Hallazgo:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MXSpanish (Mexico)Análisis de mutación completo del gen F13A1 y del gen F13B:Hallazgo:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FRFrench (France)F13A1 gène et F13B gène analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Séquençage
it-ITItalian (Italy)F13A1, gene & F13B, gene Analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Geni F13A1 e F13B Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)F13A1-gen & F13B-gen volledige mutatie-analyse:bevinding:moment:bloed of weefsel:document:sequencing
pl-PLPolish (Poland)F13A1 gen & F13B gen pełna analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:sekwencjonowanie
Synonyms: Gen F13A1 i F13B
zh-CNChinese (China)F13A1 基因 & F13B 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: F13A FXIIIA 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 XIII, A1 多肽基因 凝血因子 XIIIa 基因 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 因子 XIIIa 基因 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 血;血液 遗传基因;遗传因子;吉恩;生物基因

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