Test Kit for Quantification of TREC DNA, KREC DNA and Qualitative Detection of SMN1 Gene Exon 7 | SPOT-it TREC, KREC & ⁠SMN1

In the US and many European countries, severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA) have become mandatory tests in national newborn screening programs. The reason is very simple but vital: The golden window.

Infants with SCID or SMA are usually born looking completely healthy. However, if the disease is not detected and treated before symptoms appear, the outcome is often early death or permanent disability. This places a very heavy burden on families and society. That is why early screening for SCID and SMA is critically important, because timely intervention can change a child's destiny: The child will have the chance to go to school, work and contribute to society. In particular, advanced testing solutions also add screening for agammaglobulinemia (XLA) to comprehensively protect children against the risk of severe infections from the very beginning of life.

When a test is introduced into a national program, where hundreds of thousands of infants need to be tested every year, the challenge is not only "can it be tested?", but:

How can the workflow be made extremely simple to minimize human error?

How can results be delivered as quickly as possible?

How can infrastructure investment costs be optimized while still ensuring accuracy?

That is why demanding healthcare systems such as Sweden, the Netherlands, Germany, Norway, Poland and many other European countries have trusted the SPOT-it™ solution from ImmunoIVD (Sweden). SPOT-it™ is not just a kit, but a smart operating workflow that thoroughly removes the barriers of the laboratory:

Simultaneous detection of SCID, SMA, XLA in a single test tube.

Plate-Stacking technology: Allows DNA samples to be transferred from the extraction plate to the PCR plate without a complex liquid handling system. This minimizes manual handling errors and saves on equipment investment costs.

Fast turnaround time: The entire workflow, from dried blood spot (DBS) sample to result, takes less than 3 hours.

Reagents preloaded in the plate: The lab does not need to invest in a separate clean room to prepare the MasterMix, minimizing the risk of cross-contamination.