Molecular screening brings new and different technologies into the newborn screening ​(NBS) laboratory, creating a need for related resou​rces. APHL collaborates with CDC's Newborn Screening and Molecular Biology Branch (NSMBB)​ to provide state newborn screening programs with information ​on available molecular methods and quality improvement activities.​

​NBS Molecular Methods

State NBS Lab Assays

The state NBS laboratory assays list (access restricted to NBS lab directors and their delegates) explains how newborn screening programs use their molecular assays and allows users to search for the molecular assay that best fits their needs​. 

Sequencing Decision Matrix

The NBS sequencing decision matrix helps NBS programs evaluate considerations on incorporating gene sequencing into their program. The matrix tool outlines various factors involved in getting your program ready for sequencing and incorporates skip logic to generate custom recommendations for future applications of sequencing.

Aut​​omation Methods

The links below offer information on the use of automation in newborn screening programs, types of automation instruments and considerations in purchasing a liquid handler:​

Molecular Assessme​nt Program Quality Improvement 

The Molecular Assessment Program (MAP) is a non-regulatory site visit offered by CDC and APHL that is tailored to newborn screening laboratories that perform molecular tests. MAP was developed to assist newborn screening laboratories to determine how to best meet their molecular testing ne​eds with available resources. 

View more information on testimonials, checklists and to rate your MAP visit.

Molecular Training Resources​


Use of Molecular Methods in Hemoglobinopathies Screening: State Experiences (2023)

Use of Molecular Methods in Hemoglobinopathies Screening: The Clinician Perspective (2023)

Molecular Training Workshop

APHL Molecular Training Workshop (2020)

APHL Molecular Training Workshop (2016)

Gene Sequencing Resources

Gene Sequencing Forum at NBS Symposium (2017)

Gene Sequencing in Public Health Newborn Screening Meeting (2017)

APHL Next Generation Sequencing Implementation Guide (2017)

Frequently Asked Questions

Spinal​ Muscular Atrophy

Organizing and Optimizing Laboratory Space for Molecular Workflow​


For more information about these molecular resources or if you need assistance accessing content, please contact Funke Akinsola, senior specialist, Newborn Screening & Genetics.