Purine/pyrimidine screen (blood)

Description: 
Detection of abnormal purine metabolites in plasma.
Clinical details: 
ADSL, TP deficiency (MNGIE), low urate, high urate.
Related condition or disease: 
Metabolite screen for inherited defects of purine or pyrimidine metabolism.
Reference range: 

Please contact the laboratory to discuss

Department: 
Reference Services
Location: 
Blackfriars Hub
Sample type and Volume required: 
EDTA (purple top) Note that urine is preferred.
Turnaround time: 
3 weeks
Criteria for acceptance / rejections of sample
Storage and transport: 
Store in fridge, ( don’t freeze) to laboratory within 3 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