Purine/pyrimidine screen – seizures
- Description
- Urine screen by UPLC for elevated hypoxanthine and xanthine levels associated with molybdenum cofactor deficiency (MOCOD).
- Clinical details
Refractory seizures.
- Related condition
- Reference range
Please contact the laboratory to discuss
- Testing site
- Synnovis : Reference Services : Blackfriars Hub
- Laboratory
- Precision Medicine
- 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
Precision Medicine Laboratory at Blackfriars Hub
Phone: 020 4 591 0058
Reference Chemistry
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London
SE1 8NZ