APRT (Adenine phosphoribosyltransferase) – urine

Description
Urine screen.
Clinical details
The presence of 2,8-dihydroxyadenine in urine measured using a UPLC-based method is diagnostic of APRT deficiency.
Related condition
Reference range

Please contact the laboratory to discuss

Testing site
Synnovis : Reference Services : St Thomas' Hospital
Laboratory
Purine Research
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

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