​​This five-day workshop included wet-lab activities as well as lectures and group discussions. The workshop highlighted molecular assays for a variety of newborn disorders including galactosemia, hemoglobinopathies, CF and SCID. Some of the topics discussed included molecular laboratory design and unidirectional workflow, comparison of instrument platforms for NBS genotyping, assay requirements for multiplex assay design and data reporting and clinical interpretation. Laboratory activities included DNA extraction using the boil prep method, using robotics for DNA extraction and assay set-up, running and analyzing gels and DNA quantitation using RNAseP.

The presentations below have been authorized to be posted on this website. Duplication is not authorized without the express written permission of the authors.

Sponsors

  • Association of Public Health Laboratories
  • Centers for Disease Control and Prevention, Newborn Screening and Molecular Biology Branch

Co-Directors

  • Suzanne Cordovado, Centers for Disease Control and Prevention
  • Carlos Saavedra-Matiz, New York State Department of Health, Wadsworth Center

Course Objectives

  • Identify scenarios when a molecular test is appropriate in the newborn screening laboratory
  • Describe the benefits of using a molecular test for different newborn screening disorders
  • Name at least two applications of molecular testing in newborn screening
  • Describe the common protocols for DNA extraction and DNA quantification from dried blood spots
  • Describe a PCR-based assay to detect a single or small number of mutations
  • Conduct DNA extraction, DNA quantification, PCR amplification, gel electrophoresis, and mutation detection methods
  • Understand quality control procedures and requirements specific for molecular testing
  • Understand data reporting and interpretation as it relates to molecular testing

Presentations

Monday, February ​24

Course Outline and Objectives
Carlos Saavedra-Matiz, New York State Department of Health, Wadsworth Center

Overview of Molecular NBS
Michele Caggana, New York State Department of Health, Wadsworth Center

Overview and Utility of Molecular Biology Techniques
Suzanne Cordovado, Centers for Disease Control and Prevention

Molecular Lab Design, QA/QC Considerations
Rachel Lee, Texas Department of State Health Services

Molecular NBS - The RUSP and Beyond
Michele Caggana, New York State Department of Health, Wadsworth Center

Tuesday, February​​ 25

Fundamental Concepts of Sequencing
Carlos Saavedra-Matiz, New York State Department of Health, Wadsworth Center

Utility of Sequencing in a NBS Laboratory
Mei Baker, Wisconsin State Laboratory of Hygiene

Developing a Multiplex Genotyping Assay
Chris Greene, Centers for Disease Control and Prevention

How to Validate a Molecular Assay
Rachel Lee, Texas Department of State Health Services

Wednesday, Februa​​ry 26

DNA Sequencing Variant Interpretation and Reporting
Anne Comeau, New England Newborn Screening Program

Thursday, February 2​​7

Overview of SCID/SMA and real-time qPCR
Francis Lee, Centers for Disease Control and Prevention

Triplex SCID/SMA/RNase P assay
Nicolle Baird, Centers for Disease Control and Prevention

Screen Positive Follow-up Process
Amy Gaviglio, G2S/ CDC/ APHL

Friday, February​​​ 28

Molecular Assessment Program 
Chris Greene, Centers for Disease Control and Prevention

NBS Molecular Resources Website
Laura Hancock, Centers for Disease Control and Prevention