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
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.
Reference range:
NTBC recommended therapeutic target range 20-40 µmol/L
Synonyms or keywords:
NTBC, Suac, Succ, SA
Units:
µmol/L
Department:
Location:
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:
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Last updated: 30/07/2025
