SPOT-it™ TREC, KREC & SMN1 Screening Kit is an in vitro diagnostic kit intended for simultaneous screening for severe combined immunodeficiency(SCID), agammaglobulinemia (XLA) and Spinal Muscular Atrophy (SMA) in newborns.

Screening for SCID and XLA is performed by semi-quantification of T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circles (KREC) and SMA screening by a qualitative detection of exon 7 of the SMN1 gene. DNA is extracted from fresh, dried blood spots (DBS) sampled on filter paper. The principle of the assay is real-time quantitative polymerase chain reaction (qPCR).

The test is intended for use by laboratory professionals to aid in identifying newborns who potentially suffer from SCID caused by a lack of mature T- or T and B-lymphocytes or XLA caused by a selective lack of mature B-lymphocytes or SMA caused by homozygous exon 7 deletion in the SMN1 gene. Diagnosis shall be made by healthcare professionals through confirmatory testing, according to local requirements or recommendations.