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Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots

Journal of Paediatrics and Child Health Sep 16, 2017

Richards S, et al. - The accuracy of EnLite Neonatal T-cell receptor excision circles (TREC) kit was examined for detection of TRECs from newborn screening (NBS) dried blood spots for the identification of known severe combined immunodeficiency (SCID) patients in Victoria. Results confirmed that the EnLite Neonatal TREC kit accurately identified known SCID or complete DiGeorge syndrome (CDGS) patients as presumptive positive samples, and initial cut-offs for TREC and β-actin in the Victorian NBS population were determined. However, further research was needed to approve these proposed cut-offs and to determine the cost and implementation of this screening programme in Victoria, Australia.
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