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
- Reference range
Please contact the laboratory to discuss
- Testing site
- Synnovis : Reference Services : Blackfriars Hub
- Laboratory
- Precision Medicine
- 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
- Turnaround time
6 weeks
- Contacts
Precision Medicine Laboratory at Blackfriars Hub
Phone: 020 4 591 0058
Reference Chemistry
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London
SE1 8NZ