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Molecular Screening Resources

Molecular screening brings a variety of new technologies into the newborn screening laboratory, creating a need for training and guidance resources. Explore information and resources on available molecular methods and quality improvement activities.

Questions?

Contact the Newborn Screening and Genetics team: [email protected]

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About Molecular Screening Technologies

Technological advances can help expand the capabilities of newborn screening programs and improve screening and diagnostic testing. Molecular screening offers the opportunity for newborn screening programs to implement new, complex testing options—such as gene sequencing.  
Molecular Methods and Quality Improvement

Molecular Resources for Newborn Screening

We collaborate with the US Centers for Disease Control and Prevention’s (CDC) Newborn Screening and Molecular Biology Branch​ to provide state newborn screening programs with information ​on available molecular methods and quality improvement activities.​ 
Pre-implementation Considerations

For newborn screening programs considering adding molecular testing options, there are many considerations and resource needs that should be assessed to determine how, if and when to incorporate sequencing into your program. Our decision matrix tool can help evaluate your options.

Access the Decision Matrix
Implementation Considerations

Once the decision has been made to incorporate molecular methods, follow our step-by-step guide to ensure the workflow is set up efficiently and effectively—from essential equipment and workspace setup to best practices for quality control.

Access the Guide

Molecular Training Workshop

This five-day intensive workshop focuses on molecular assays for a variety of newborn disorders. Laboratory activities will focus on DNA extraction, PCR-based assays, including TREC qPCR and Sanger sequencing. Discussion topics will include methodologies and best laboratory practices in molecular testing, data analysis and interpretation, quality assurance and control issues. More information, including application details and deadlines, will be released through the NewSTEPs listserv.