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: 
Biochemical Sciences Department
Location: 
St Thomas' Hospital
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 St Thomas'
020 7188 1266
St Thomas’ Hospital
North Wing - 4th Floor
Westminster Bridge Road
London SE1 7EH
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Purine Research Laboratory at St Thomas'

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Last updated: 15/12/2015