Second Tier Sequencing for Public Health Labs

Reduce False Positives in Your Newborn Screening Program

Baebies now offers second tier testing by genetic sequencing in our CLIA-certified lab to further reduce false positives in newborn screening (NBS) for lysosomal storage disorders.

Using the original dried blood spot from the first tier newborn screen, Baebies comprehensive molecular characterization service identifies specific mutations in the GAA (Pompe disease) and IDUA genes (MPS I, including Hurler, Hurler-Scheie and Scheie subcategories) – as well as mutations in the GBA (Gaucher disease), GLA (Fabry disease), GALC (Krabbe disease), and ASM genes (Niemann-Pick Disease).

Baebies Second Tier Sequencing Lab Service

If your public health lab is currently screening for Pompe disease and MPS I or considering adding these disorders to your panel, Baebies second tier sequencing provides the following benefits:

  • Reduces the false positive rate which saves follow-up programs time and money
  • Prevents unnecessary family anxiety incurred while awaiting follow-up results
  • Provides a precise genetic characterization to inform referral and treatment decision
  • Brings equity of care to all families by moving insurance-based DNA sequencing follow-up to NBS-based universal screening

Want to share more information with your public health lab? Request more info on second tier sequencing:

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By combining First Tier Newborn Screening on FDA-cleared SEEKER with Second Tier Sequencing, Baebies partners with public health labs to provide a complete solution to screening for lysosomal storage diseases.

Learn more about the Benefits of Second Tier Testing on the Baebies blog.