Mutation analysis: ADA, ADSL, DPYD, DPYS, HNF1beta, HPRT, MOCS1, MOCS2, GEPHRIN, PNP, PRPS1, SUOX, TP, UMOD, UMPH, UMPS.

Description: 
Mutation analysis by Sanger sequencing of exons and flanking intronic sequences is available for purine and pyrimidine disorders.
Clinical details: 
Characterisation of mutations is offered for molecular confirmation of defects identified by metabolite screens or enzyme assay. Identification of the molecular defect may be necessary for prenatal testing and cascade testing in families.
Related condition or disease: 
Mutation analysis ADA, ADSL, DPYD, DPYS, HNF1beta, HPRT, MOCS1, MOCS2, GEPHRIN, PNP, PRPS1, SUOX, TP, UMOD, UMPH1, UMPS.
Reference range: 

Please contact the laboratory to discuss

Department: 
Reference Services
Location: 
Blackfriars Hub
Sample type and Volume required: 
4 mL blood EDTA (purple top)
Turnaround time: 
6 weeks
Criteria for acceptance / rejections of sample
Storage and transport: 
Store in fridge, ( don’t freeze)to laboratory within 5 days/1st class post
Contacts:
Purine Research Laboratory at Blackfriars Hub
020 4 591 0058
Reference Chemistry, 1st Floor Blackfriars Hub
41-43 Friars Bridge Court
Blackfriars Road
London
SE1 8NZ
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Purine Research Laboratory at Blackfriars Hub

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Last updated: 30/01/2026