F8 intron 1 and intron 22 inversions for severe haemophilia A
- Description
- F8 inversion mutations are analysed by inverse PCR based on digestion > ligation > amplification with specific primers
- Clinical details
- F8 inversion mutations represent the pathogenic basis of approaching 50% of patients with Severe Haemophilia A
- Related condition
- Reference range
n/a
- Units
- n/a
- Synonyms
- Intron 22 Inversion Intron 1 Inversion
- 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
- 4 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