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

ConclusionsThe EnLite Neonatal TREC kit correctly identified known SCID or CDGS patients as presumptive positive samples, and initial cut‐offs for TREC and β‐actin in the Victorian NBS population were determined. A larger pilot study is required to confirm these proposed cut‐offs and to evaluate the cost and implementation of this screening programme in Victoria, Australia. Overall, this study provides preliminary data to support the introduction of this assay to the NBS programme in Victoria.
Source: Journal of Paediatrics and Child Health - Category: Pediatrics Authors: Tags: Original Article Source Type: research