Purine/pyrimidine screen

Description: 
Abnormal purine and pyrimidine metabolites in urine are separated by UPLC and detected by characteristic UV absorption profiles. Please note: dihydrouracil, dihydrothymine and ureidopropionate are not detected by this method.
Clinical details: 
ADA (adenosine deaminase), ADSL (adenylosuccinate lyase), APRT adenine phosphoribosyltransferase), TP (thymidine phosphorylase), DPD (dihydropyrimidine dehydrogenase), MOCOD (combined molydenum cofactor), PNP (purine nucleoside phosphorylase), UMPS (UMP synthetase) & XDH (xanthine dehydrogenase) deficiencies. A markedly elevated uric acid to creatinine ratio is suggestive of purine over-production due to HPRT deficiency or PRPS superactivity.
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: 
2 - 5 mL random urine Universal container (thymol crystals or fresh)
Turnaround time: 
3 weeks
Criteria for acceptance / rejections of sample
Storage and transport: 
store in fridge (short term )or freezer, can thaw in 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

Print as a PDF

Last updated: 30/01/2026