Abstract
A testing platform for newborn screening (NBS) for severe combined immunodeficiency (SCID) by TREC quantitation from dried blood spot (DBS) was developed and validated for population-based screening by the NIH in 2005.1 Since 2008 NBS for SCID has been adopted by 49 screening programs in the United States.2 The Paediatric Immunology department, Starship Children's Hospital, made a submission to the Technical Advisory Group of the National Screening Unit (NSU) NZ in 2013 to have SCID added to NBS. A cost-utility study was undertaken in 2014 and addition of SCID NBS was approved by the National Screening Advisory Committee in 2015. Evaluation of the EnLite™ Neonatal TREC (Perkin Elmer) CE marked in-vitro diagnostic (IVD) assay, a multiplex endpoint PCR method (quantifying TREC DNA and a B-actin control), was undertaken by the newborn screening team at LabPlus. The assay performed to kit specifications, comparable with published data.3 Agreement was obtained for CDC proficiency samples and four confirmed SCID positive DBS were successfully identified. Over 3000 unique retrospective newborn DBS were run and allowed a TREC cut-off threshold to be determined and development of a SCID NBS testing algorithm. Pathways for confirmatory testing and clinical support were developed and SCID NBS will commence in NZ from December 2017.
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