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
- Reference range
n/a
- Units
- n/a
- Synonyms
- Factor V deficiency F5 Parahaemophilia Owren disease Hereditary bleeding
- Testing site
- Synnovis : Genomics : St Thomas' Hospital
- Laboratory
- Molecular Haemostasis
- Sample type and volume required
- 1 x Edta
- Call in advance
- no
- Storage and transport
- transport at ambient temperature
- Turnaround time
- 8 weeks
- Contacts
Molecular Haemostasis Laboratory at St Thomas’ Hospital
Phone: 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