Genetic Research Assays for Newborn Screening

Definitive insights to shape healthier futures

Genetic testing solutions for newborn screening identify conditions that can affect newborns and their long-term health or survival. These solutions help in early detection, diagnosis, and intervention for genetic health risks and enable children to reach their full potential.

Workflow

Thermo Fisher Scientific offers two robust assays for simultaneous detection of severe combined immunodeficiency syndrome (SCID) and spinal muscular atrophy (SMA) directly from dried blood spot (DBS) samples, empowering clinical researchers globally to make well-educated decisions.  

 

Our complete newborn screening platform includes assays, fully kitted reagents, array processing qPCR instruments, and data analysis software for simplified interpretation and reporting. These tools support laboratories to maximize operational time.

Product overview

TaqMan SCID/SMA Plus Assay

The TaqMan SCID/SMA Plus Assay is a multiplex real-time PCR assay that detects the SMN1 gene, TREC, and KREC, as well as the RNase P gene as an internal genomic control. 

  • Key features of the TaqMan SCID/SMA Plus Assay include: 
  • Optimized for SCID (TREC and KREC) and SMA 
  • Direct extraction from DBS samples for reduced hands-on time and cost 
  • Compatible with 96- or 384-reaction protocols 
  • High-quality results for 96 samples within 55 minutes using the fast-cycling protocol 
  • Minimal liquid-dispensing steps for easy automation

TaqMan SCID/SMA Assay

The TaqMan SCID/SMA Plus assay and the TaqMan SCID/SMA assay offer unmatchable insights into SCID and SMA to clinical researchers. The TaqMan SCID/SMA Plus Assay evaluates SCID by looking at both TREC and KREC whereas the TaqMan SCID/SMA Assay evaluates SCID by looking at TREC only.

Ordering information

For Research Use Only. Not for use in diagnostic procedures.