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: 
Biochemical Sciences Department
Location: 
St Thomas' Hospital
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:
Purine Research Laboratory at St Thomas'
020 7188 1266
St Thomas’ Hospital
North Wing - 4th Floor
Westminster Bridge Road
London SE1 7EH
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Purine Research Laboratory at St Thomas'

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Last updated: 15/12/2015