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.
Reference range:
Please contact the laboratory to discuss
Department:
Location:
Sample type and Volume required:
2 - 5 mL random urine Universal container (thymol crystals or fresh)
Turnaround time:
3 weeks
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
North Wing - 4th Floor
Westminster Bridge Road
London SE1 7EH
Laboratory:
Last updated: 15/12/2015