Newborn Screening: A vital step in the early detection of genetic diseases

Early detection for prompt intervention
Performed using just a few drops of blood collected on filter paper (DBS – Dried Blood Spots), newborn screening helps identify conditions that, if left untreated, can lead to developmental delays or even be fatal. The range of detectable diseases at birth has expanded thanks to therapeutic advancements that make early treatment possible.
Cutting-edge technologies for reliable, high-performance screening
- Immunoassay
Immunoassays rely on ELISA and enzymatic techniques, which are the gold standards in newborn screening. They enable the detection of metabolic and hormonal disorders. LaCAR offers high-performance reagents—available in fluorescence and colorimetry formats—that meet IVD standards and are adaptable to various lab setups and levels of automation.
- DNA analysis
LaCAR’s DNA analysis range includes screening kits for Spinal Muscular Atrophy (SMA) and Severe Combined Immunodeficiencies (SCID), available as separate or combined kits. With ready-to-use protocols, results for up to 93 samples can be obtained in under 2.5 hours. These qPCR-compatible kits work with dried blood samples and offer optimal flexibility for labs of all sizes.
- Mass spectrometry (LC-MS/MS)
Mass spectrometry plays a key role in screening for hemoglobinopathies, including thalassemia syndromes and structural variants such as sickle cell disease. LaCAR's kits enable efficient multiplexing and are compatible with a wide range of triple quadrupole mass spectrometers. The new "Targeted MS/MS" tests provide fast, sensitive, and reproducible results.
- Digital microfluidics (DMF)
This innovative technology allows precise manipulation of microdroplets on a controlled electronic surface, without the use of pumps or channels. Digital microfluidics enhance the speed and reliability of testing, while simplifying newborn screening protocols.
Discover our newborn screening kits
A complete workflow, from sample collection to analysis
- Sample Collection: The Importance of 903® Blotting Papers
Sample quality is critical. LaCAR uses CE-marked 903® blotting papers, compliant with 98/79/EC, FDA Class II, and CLSI LA4-A5 standards. These papers ensure consistent, reliable collection. Both standard and custom formats are available, ready to meet the diverse needs of healthcare professionals.
- Sample preparation and processing
Dried blood sample preparation is a key stage in newborn screening. To ensure precision and traceability, LaCAR provides CE-marked automated DBS workstations, suitable for all laboratory workflows.
- NEO-C-500: High-performance automated workstation for ELISA-based microplate assays, combining speed, accuracy, and flexibility.
- NEO-F-500: Advanced solution for colorimetric and fluorometric immunoassays (ELISA & FLISA).
- NEO-M-300: Hamilton StarLET robotic system for fully automated sample processing, from lysis to reagent distribution.
These tools boost laboratory efficiency while ensuring reliable and reproducible results.
- GeneFoxCub software: Diagnostic automation
Developed by FoxWare for LaCAR, GeneFoxCub is a software solution that streamlines neonatal screening workflows. It automates diagnostic processes, ensures regulatory compliance, and enhances the reliability of test results.
Why choose LaCAR’s newborn screening solutions?
- Certified and automation-ready kits
- Fast and reliable results
- Adaptable to various laboratory environments
- Cutting-edge technologies (qPCR, LC-MS/MS, DMF)
- Dedicated software for optimal screening workflow management
- Collection materials compliant with the highest standards
Conclusion
Newborn screening represents a major breakthrough in preventive medicine. By leveraging LaCAR’s advanced technological solutions, laboratories can deliver early, reliable, and rapid diagnostics, giving newborns the best possible chance at a healthy life.