Nitisinone (NTBC) and Succinylacetone
- Description
- This test is part of the transfer of services from the WellChild laboratory at the Evelina Children's Hospital. Nitisinone (NTBC) and succinylacetone by liquid chromatography tandem mass spectrometry (LC-MS/MS). This test is not currently included in the laboratory's UKAS scope of accreditation to ISO15189:2012
- Clinical details
For the monitoring of known patients with inherited metabolic disease, specifically tyrosinaemia type 1.
- Related condition
- Reference range
NTBC recommended therapeutic target range 20-40 µmol/L
- Units
µmol/L
- Synonyms
NTBC, Suac, Succ, SA
- Testing site
- Synnovis : Reference Services : Blackfriars Hub
- Laboratory
- Inherited Metabolic Disease
- Sample type and volume required
Bloodspot card. Two spots > 8 mm in diameter. Blood must be soaked through & not multi-spotted. Blood spots must be allowed to dry sufficiently before being placed in the glassine envelope.
- Special sample instructions
Samples that are received without a minimum of three forms of patient identifiable information will be rejected and will not be analysed. Sample collection date must be supplied.
- Storage and transport
DBS SuAc is reported to be stable when stored at low humidity (<5% of initial concentration lost over 30 days). However, due to significant losses at high humidity, specimens should be stored frozen at -20°C in foil envelope with desiccant until analysis. DBS samples can be sent at ambient temperature via first class post or courier.
- Contacts
Inherited Metabolic Diseases Unit at Blackfriars Hub
Phone: 020 4591 0070
IMD Duty Biochemist: 07592 502653
Email: ClinicalScientistIMD@synnovis.co.uk
Reference Chemistry
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London
SE1 8NZ