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 or disease: 
Severe Haemophilia A
Reference range: 

n/a

Synonyms or keywords: 
Intron 22 Inversion Intron 1 Inversion
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: 
4 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