92992-7  FGA, FGB, and FGG gene full mutation analysis in Blood or Tissue by SequencingFGA, FGB, and FGG gene full mutation analysis in Blood or Tissue by SequencingFGA gene & FGB gene & FGG gene full mutation analysis: Find: Pt: Bld/​Tiss: Doc: Sequencing  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
FGA gene & FGB gene & FGG gene full mutation analysis  Find  Pt  Bld/Tiss  Doc  Sequencing
  Long Common Name:  FGA, FGB, and FGG gene full mutation analysis in Blood or Tissue by Sequencing
  Short Name:  FGA + FGB + FGG Full Mut Anl Bld/T Seq
  Display Name:  FGA, FGB, and FGG gene full mutation analysis Sequencing Doc (Bld/Tiss)

TERM DEFINITION/DESCRIPTION(S)
  This test detects pathogenic alterations within the FGA, FGB, and FGG genes to delineate the underlying molecular defect in a patient with a laboratory diagnosis of congenital afibrinogenemia/hypofibrinogenemia or dysfibrinogenemia/hypodysfibrinogenemia.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: FGA gene & FGB gene & FGG gene
  The FGA, FGB and FGG genes encode the 3 distinct protein subunits of fibrinogen, which has a well-established role in formation of the fibrin matrix of blood clots after proteolysis by factor IIa. Mutations resulting in fibrinogen disorders can be either quantitative (afibrinogenemia or hypofibrinogenemia) or functional (dysfibrinogenemia), and can affect any of the 3 subunits. Clinical severity can be highly variable, manifested as bleeding of the CNS GI, GU, skin, or umbilical cord neonatally. Not surprisingly, those with the lowest levels (below 0.5 g/L) are associated with more severe bleeding. Those with dysfibrinogenemia can have either bleeding or thromboembolic complications. [PMID:29844251]
 
 
  Part: 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]
 
 

BASIC ATTRIBUTES
  Class/Type: MOLPATH/Lab
  First Released in Version: 2.66
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active

PARTS

Part Type    Part No.  Part Name   
Component   LP405412-0  FGA gene & FGB gene & FGG gene full mutation analysis 
Component   LP344995-8  FGA gene & FGB gene & FGG gene   [FGA, FGB, and FGG gene] 
     Suffix   LP150044-8  full mutation analysis 
Property   LP6813-2  Find   [Finding] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP7061-7  Bld/Tiss   [Blood or Tissue] 
Scale   LP32888-7  Doc 
Method   LP150045-5  Sequencing 
Fragments for synonyms   LP32514-9  Mutation 

RELATED NAMES
  Blood HEL-S-78p Tissue
  Document Molecular pathology Tissue, unspecified
  FGA + FGB + FGG MOLPATH WB
  fibrinogen beta chain Mut Whole blood
  Finding Mutations Whole blood or Tissue
  Findings Point in time  
  full gene sequencing Random  
  Full Mut Anl sequencing of entire coding region  

CHANGE HISTORY
  Change Type: ADD

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 9:00:48 AM
  Long Common Name: FGA, FGB, and FGG gene full mutation analysis in Blood or Tissue by Sequencing
  Shortname: FGA + FGB + FGG Full Mut Anl Bld/T Seq
  Fully Specified Name: FGA gene & FGB gene & FGG gene full mutation analysis: Find: Pt: Bld/Tiss: Doc: Sequencing
     
  Component Word Count: 9
  ID: 100572
  Status (Raw): ACTIVE