Carrier Analysis: for inherited disorders of purine and pyrimidine metabolism

Description: 
Carrier testing by Sanger DNA sequencing is offered to families where the mutation is known.
Clinical details: 
Carrier testing may useful for screening at-risk family members with a known history of the disorder.
Related condition or disease: 
Inherited purine and pyrimidine disorders.
Reference range: 

Please contact the laboratory to discuss

Department: 
Reference Services
Location: 
Blackfriars Hub
Sample type and Volume required: 
4 mL blood EDTA (purple top)
Turnaround time: 
10 days
Criteria for acceptance / rejections of sample
Storage and transport: 
Store in fridge, ( don’t freeze)to laboratory within 5 days/1st class post
Contacts:
Purine Research Laboratory at Blackfriars Hub
020 4 591 0058
Reference Chemistry, 1st Floor Blackfriars Hub
41-43 Friars Bridge Court
Blackfriars Road
London
SE1 8NZ
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Purine Research Laboratory at Blackfriars Hub

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Last updated: 30/01/2026