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
- 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