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
