PNP (Purine nucleoside phosphorylase) - urine

Description: 
PNP deficiency leads to the accumulation in urine of inosine, deoxyinosine, guanosine and deoxyguanosine. These metabolites are detected using a UPLC-based method and are normally absent.
Clinical details: 
Inherited severe combined immunodeficiency, low urate, neurological abnormalities.
Related condition or disease: 
Severe combined immunodeficiency.
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:
Inherited Metabolic Diseases Unit at Blackfriars Hub
020 7188 9652
Reference Chemistry, 1st Floor Blackfriars Hub
Friars Bridge Court
Blackfriars Road
London
SE1 8NZ

IMD Duty Biochemist: 07592 502653
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Inherited Metabolic Disease Laboratory at Blackfriars Hub

Print as a PDF

Last updated: 13/03/2026