F8 mutation screen for haemophilia A

Description: 
Analysis of the F8gene by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach.Dosage analysis, via MLPA, is available as a second line test where gross deletions/ insertions are suspected. Analysis of common F8 inversion mutations is performed as a first line test on patients with a severe phenotype.
Clinical details: 
Haemophilia A is an X-linked bleeding disorder of variable severity. Severe deficiency of factor VIII clotting activity is associated with spontaneous joint or deep tissue bleeding. Moderate or mild deficiency is associated with prolonged bleeding after tooth extractions, surgery, or injuries and recurrent or delayed wound healing.
Haemophilia A has a world-wide incidence of approximately 1 in 5000 live male births.
Related condition or disease: 
Severe Haemophilia A
Moderate Haemophilia A
Mild Haemophilia A
Haemophiia A carrier (females)

Differential diagnsosis:
Type 2N von Willebrand disease
Combined FV & FVIII deficiency
Reference range: 

n/a

Synonyms or keywords: 
F8 Haemophilia A Factor VIII deficiency X-linked bleeding
Units: 
n/a
Department: 
Haemostasis and Thrombosis Department
Location: 
St Thomas' Hospital
Sample type and Volume required: 
1 x Edta
Call in advance: 
no
Turnaround time: 
8 weeks
Criteria for acceptance / rejections of sample
Storage and transport: 
transport at ambient temperature
Contacts:
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.
Laboratory: 
Molecular Haemostasis Laboratory at St Thomas'

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Last updated: 14/03/2017