Second Tier Sequencing

Reduce False Positives in Your Newborn Screening Program

Newborn screening provides a first step to early diagnosis of rare diseases. It is population-based and designed to maximize sensitivity and identify presumptive positive cases. Adding second-tier molecular sequencing reduces false positives and identifies children who need a clinically confirmed diagnosis.

Baebies provides a comprehensive analysis of presumptive positive case samples in our CLIA-licensed lab to differentiate false positives. Reducing false positive results lets you focus on the babies who truly need referrals.

Improve specificity
Inform treatment faster
Advance equity of care

Testing Menu

IDUA Mucopolysaccharidosis I

IDS Mucopolysaccharidosis II

GAA Pompe disease

GBA Gaucher disease

GLA Fabry disease

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Molecular Characterization

Baebies’ targeted next generation sequencing covers clinically relevant regions of the gene, including coding exons, +/- 25 base pairs of adjacent intronic sequence in the transcript at >95% coverage. In addition, analysis covers the select non-coding variants specifically defined in databases. Any variants that fall outside of these regions are not analyzed.

Our analysis detects most deletions and duplication events at single exon resolution with a window size of 20-60 base pairs.


Baebies creates a customized report based on your requested information: genes, variants identified, classification of identified variants (Pathogenic, Likely pathogenic, VUS, pseudodeficiencies etc.), and further interpretation.

Up to 69.5% Reduction

in False Positive Referrals for Pompe based on analysis of customer data from multiple NBS public health laboratories.

CRIM Status Prediction

When you request sequencing for Pompe Disease, we provide you with a cross-reactive immunological material (CRIM) status prediction based on detected GAA mutations. CRIM status helps determine best treatment protocols for patients with Pompe Disease.


Combining First Tier Newborn Screening on SEEKER with second-tier testing gives you a complete solution to screening for lysosomal storage diseases.

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