14C-citrulline incorporation
- Description
- Radiolabelled enzyme assay
- Related condition
- Reference range
Simultaneous assay controls quoted
- Synonyms
- citrulline incorporation, Citrullinaemia, citrullinemia, argininosuccinic aciduria, urea cycle
- Testing site
- Synnovis : Reference Services : Guy's Hospital
- Laboratory
- Biochemical Genetics
- Sample type and volume required
- Cultured cells, Prenatal diagnosis available
- Call in advance
- Yes
- Storage and transport
- Collect skin biopsies into sterile saline or sterile culture media containing fetal bovine serum and send by first class post or courier. Do not freeze. Mycoplasma testing is carried out as standard.
- Turnaround time
- 6 weeks from cultured cells, additional 8 weeks (minimum) from skin biopsy
- Contacts
Biochemical Genetics Laboratory at Guy’s Hospital
Phone: 020 7188 2592
Email: MetabolicEnzymes@synnovis.co.uk
Genetics Department
Tower Wing – 5th Floor
Guy’s Hospital
Great Maze Pond
London SE1 9RT