Carrier Analysis: for inherited disorders of purine and pyrimidine metabolism
- Description
- Carrier testing by Sanger DNA sequencing is offered to families where the mutation is known.
- Clinical details
Carrier testing may useful for screening at-risk family members with a known history of the disorder.
- 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
10 days
- 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