F5 mutation screen

Description: 
Analysis of the F5gene by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach.
Clinical details: 
Heritable factor V deficiency is an autosomal recessive rare bleeding disorder, caused by defects in the F5 gene. Clinical presentation can be severe or even life threatening. It often manifests from birth, with bleeding from the umbilical stalk. The majortiy of patients with factor V deficiency will have mucosal bleeding, and most females will also have menorrhagia. Some patients, with a null mutation and a FVLeiden polymorphism on the expressed allele may present with elevated thrombotic risk.
Related condition or disease: 
Factor V deficiency
Parahemophilia
Owren disease
Reference range: 

n/a

Synonyms or keywords: 
Factor V deficiency F5 Parahaemophilia Owren disease Hereditary 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