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 or disease: 
MOCOD, isolated sulphite oxidase deficiency.
Reference range: 

Please contact the laboratory to discuss

Department: 
Reference Services
Location: 
Blackfriars Hub
Sample type and Volume required: 
2 - 5 mL random urine Universal container (thymol crystals or fresh)
Turnaround time: 
3 weeks
Criteria for acceptance / rejections of sample
Storage and transport: 
store in fridge (short term )or freezer, can thaw in 1st class post
Contacts:
Inherited Metabolic Diseases Unit at Blackfriars Hub
020 7188 9652
Reference Chemistry, 1st Floor Blackfriars Hub
Friars Bridge Court
Blackfriars Road
London
SE1 8NZ

IMD Duty Biochemist: 07592 502653
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Inherited Metabolic Disease Laboratory at Blackfriars Hub

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Last updated: 13/03/2026