The Promise of NGS in Newborn Screening
When it comes to newborn screening, early detection of genetic disorders is paramount. Next-Generation Sequencing (NGS) is a transformative technology that reshapes the landscape of genetic disease research and newborn screening.
NGS offers unparalleled precision in identifying genetic variants associated with a multitude of disorders. By enabling comprehensive analysis of an infant’s genome, healthcare providers can detect conditions that might otherwise go unnoticed until symptoms manifest. This proactive approach facilitates timely interventions, potentially altering the trajectory of a child’s health.
Revvity’s end-to-end NGS workflow for newborn screening research
While NGS maintains the power to detect genetic variants responsible for many diseases, these technologies have been inaccessible for many laboratories. Addressing these challenges head-on, Revvity has developed an end-to-end NGS flexible workflow tailored for newborn screening research. Revvity’s customizable, holistic workflow – from the DNA extraction of dried blood spot samples, library preparation, automated liquid handling, sequencing, to final data analysis – is built to bring newborn research into the hands of more laboratories. Revvity’s holistic solution encompasses:
- Sample Collection: Utilizing the 226 Spot Saver RUO Card for efficient dried blood spot collection.
- DNA Extraction: Employing chemagic™ 360 instruments for high-yield genomic DNA extraction from dried blood spots.
- Library Preparation: NEXTFLEX® kits designed for robust genome coverage, compatible with leading sequencing platforms.
- Automation: Integration with Sciclone® G3 NGSx Workstation and Zephyr® Workstations to minimize manual intervention.
- Data Analysis: Leveraging a curated genetic database encompassing over 390 genes and 87,000 annotated variants, facilitating accurate interpretation.
This streamlined workflow enhances efficiency and ensures consistency and reliability in results.
The Science Support: Your Partner in NGS Implementation
As a proud collaborator of Revvity, The Science Support is committed to facilitating the adoption of NGS technologies in newborn screening programs. We offer comprehensive support, including:
- Consultation: Assessing your laboratory’s needs and recommending tailored solutions.
- Training: Providing hands-on training for personnel to ensure proficient use of Revvity’s NGS workflows.
- Technical Support: Offering ongoing assistance to address any challenges and optimize performance.
By partnering with us, laboratories can seamlessly integrate cutting-edge NGS technologies into their operations, enhancing their capacity to detect and manage genetic disorders from the outset. Discover our complete portfolio of neonatal healthcare solutions here.