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
- Reference range
Please contact the laboratory to discuss
- Testing site
- Synnovis : Reference Services : Blackfriars Hub
- Laboratory
- Inherited Metabolic Disease
- Sample type and volume required
2 – 5 mL random urine Universal container (thymol crystals or fresh)
- Storage and transport
store in fridge (short term )or freezer, can thaw in 1st class post
- Turnaround time
3 weeks
- Contacts
Inherited Metabolic Diseases Unit at Blackfriars Hub
Phone: 020 4591 0070
IMD Duty Biochemist: 07592 502653
Email: ClinicalScientistIMD@synnovis.co.uk
Reference Chemistry
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London
SE1 8NZ