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.
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: 20/05/2016