FGA + FGB+ FGG mutation screen

Analysis of the FGA, FGB and FGG genes by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach.
Clinical details: 
Quantitative Fibrinogen deficiency is the absence (afibrinogenemia) or reduction (hypofibrinogenemia) in plasma fibrinogen levels.
Qualitative fibronogenaemia (dysfibrogenemia) is the production of abnormal fibrinogen molecules.
All forms are caused by defects in one of three genes, FGA, FGB or FGG. The milder forms of the disorder (hypo- and dys-) have an autosomal dominant inheritance, while afibrinogenaemia is inherited in a recessive manner. The quantitative deficiencies are characterised by mucosal bleeding and menorrahgia, with CNS and umbilical haemorrhage, and recurrent pregnancy loss reported in patients with the more severe afibrinogenaemia. World wide incidence of afibrinogenaemia is 1 in 1,000,000
Dysfibrinogenaemia can have a more complex clinical presentation, with approximately 25% patients having a bleeding tendency, 25% reporting venous thrombosis and 50% being asymptomatic, but detected via routine laboratory screening. Dysfibrigenaemia may have an incidence of 15 /100,000
Synonyms or keywords: 
FGA FGB FGG Fibrinogenemia Hypofibrinogenemia Afibrinogenemia Dysfibrinogenemia Hypodysfibrinogenemia Renal amyloidosis
Sample type and Volume required: 
1 x Edta
Call in advance: 
Turnaround time: 
12 weeks
Storage and transport: 
transport at ambient temperature
Molecular Haemostasis Laboratory at St Thomas'
020 7188 2798
Haemostasis and Thrombosis
North Wing - 4th floor
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH

Laboratory opening times
Monday - Friday 09.00 - 17.00
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 14/03/2017