Mutation analysis: ADA, ADSL, DPYD, DPYS, HNF1beta, HPRT, MOCS1, MOCS2, GEPHRIN, PNP, PRPS1, SUOX, TP, UMOD, UMPH, UMPS.
Mutation analysis by Sanger sequencing of exons and flanking intronic sequences is available for purine and pyrimidine disorders.
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.
Please contact the laboratory to discuss
Sample type and Volume required:
4 mL blood EDTA (purple top)
Storage and transport:
Store in fridge, ( don’t freeze)to laboratory within 5 days/1st class post
For clinical advice or interpretation of results, please contact the laboratory in the first instance.