F13A + F13B mutation screen
- Description
- Analysis of the F13A and F13B genes by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach.
- Clinical details
- Factor XIII deficiency is a rare autosomal bleeding disorder with a frequency of ~1:2,000,000. It is often diagnosed at birth, with umbilical stump bleeding in up to 80% of patients. Intracranial hemorrhage is also fairly common (~25%), with soft tissue bleeding, bruising and hemarthroses also seen. Factor XIII deficiency is caused by defects in the F13A1 or F13B genes, with the vast majority having been reported in F13A1; mutations in F13B appear to be associated with a less severe phenotype. Hemorrhage is often delayed (12-36hrs.) following trauma or surgery and factor XIII deficiency is often associated with poor wound healing.
- Related condition
- Synonyms
- Factor XIII deficiency F13A1 F13B Congenital bleeding disorder.
- 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
- 12 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