F2 mutation screen
- Description
- Analysis of the F2 gene by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach.
- Clinical details
- Heritable Prothrombin deficiency is an autosomal recessive rare bleeding disorder, caused by defects in the F2 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 prothrombin deficiency will have mucosal bleeding, and the majority of females will also have menorrhagia. Even severely affected individuals have detectable levels of prothrombin and it is thought complete absence is incompatible with post-natal survival.
- Related condition
- Reference range
n/a
- Units
- n/a
- Synonyms
- Factor II F2 Prothrombin deficiency Hypoprothrombinemia Dysprothrombinemia
- 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