Confirmation / exclusion of familial mutation

Description: 
Targeted analysis for a specific mutation already identified within a family. Methodology used will depend on the mutation / disorder.
Clinical details: 
Once the causative mutation of a hereditary disorder is identified it is usually straight forward to screen other family members to determine whether they have inherited the mutation or not. This allows a definitive clinical diagnosis or excludes the disorder within an individual.
Related condition or disease: 
All hereditary haemostatic, thrombotic and platelet disorders within the laboratory repertoire.
Reference range: 

n/a

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: 
14 days
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