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: 
Biochemical Sciences Department
Location: 
St Thomas' Hospital
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 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