Quality control measures for newborn screening for sickle cell disease
Published 24 November 2021
Applies to England
© Crown copyright 2021
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Due to the limited number of providers of quality control material for haemoglobinopathy testing, the same source material may be marketed by several different suppliers. This means proprietary and apparent third party controls may be identical.
In-house quality control material must be prepared:
- from confirmed cases or as a minimum with identical characteristics in the chosen technique
- in proportions that replicate testing of newborns
The following are the recommended quality control measures for this work
1. High-performance liquid chromatography: variant newborn screening (VNBS)
The manufacturer provides the retention markers as part of the sickle cell short reagent kit. They comprise lyophilised material containing haemoglobin (Hb) types:
- FAES in vial 1
- FADC in vial 2
Retention markers should be analysed as per manufacturer’s recommendations.
2. Isoelectric focusing
This procedure requires positional quality control material. It is possible to obtain a commercial FASC control. Additional in-house material containing HbDPunjab and HbE is required. Ideally 2 separate mixtures should be prepared, the first containing HbA, HbS and HbDPunjab and the second containing HbA, HbC and HbE. This ensures that the critical separation of the haemoglobins in each mixture occurs satisfactorily.
3. Capillary electrophoresis
The manufacturer provides lyophilised FASC quality control material and this material should be analysed as per their recommendations. If capillary electrophoresis is used without in-house control material for HbDPunjab and HbE then the alternate procedure must include control material for these haemoglobins.
4. Mass spectrometry – SpotOn Diagnostics
The manufacturers supply a single level dried blood spot QC material with their kits, which generates signals for HbA, HbF, HbS, HbC HbDPunjab, HbOArab and HbE. This material is set at levels to control the action values set by the screening programme. Please note this material is not suitable for use for other methods.