N-acetyl neuraminidase
- Description
- Fluorimetric enzyme assay
- Related condition
- Reference range
- Simultaneous assay controls quoted
- Synonyms
- Glycoprotein Disorders, N-acetyl neuraminidase, Sialidosis
- 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 courier. Do not freeze. Mycoplasma testing is carried out as standard.
- Turnaround time
- 4 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