This four-day workshop was sponsored by APHL and the Centers for Disease Control and Prevention, Newborn Screening and Molecular Biology Branch. The 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, MSUD, SCID and MCAD. Some of the topics that were 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 5 prime DNA extraction, using robotics for DNA extraction and assay set-up, running and analyzing gels and DNA quantitation using RNAseP.
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Co-Directors
Suzanne Cordovado, Centers for Disease Control and Prevention
Rachel Lee, Texas Department of State Health Services
Tuesday, May 8
Course Objectives
Overview of NBS Molecular Assays
- Rachel Lee, Texas Department of State Health Services
Current Testing Platforms Used to Detect DNA Single Mutations in Routine Newborn Screening
- Mei Baker, Wisconsin State Laboratory of Hygiene
DNA Extraction and Quantitation Methods
- Suzanne Cordovado, Centers for Disease Control and Prevention
Molecular Lab Design, QA/QC Considerations
- Rachel Lee, Texas Department of State Health Services
Wednesday, May 9
Overview of Galactosemia, Hemoglobinopathies and 2nd Tier Molecular Testing
- Mike Glass, Washington State Department of Health
Overview of MCAD and Other Potential Disorders for 2nd Tier Molecular Testing
- Carlos Saavedra-Matiz, NYS Department of Health
Overview of SCID and TREC Assay
- Mei Baker, Wisconsin State Laboratory of Hygiene
NSQAP Molecular Program Discussion
- Marie Early and
Francis Lee, Centers for Disease Control and Prevention
Thursday, May 10
Instrument Platforms for Newborn Screening Genotyping- Multiplex Mutation Detection
- Carlos Saavedra-Matiz, NYS Department of Health
Overview of CF and CFTR Genotyping
- Marci Sontag, Colorado School of Public Health
Requirements for Developing and Validating a Molecular Assay
- Jackie Gerstel-Thompson, University of Massachusetts
Friday, May 11
Molecular Assessment Program
- Chris Greene, Centers for Disease Control and Prevention
Data Reporting and Clinical Interpretation
- Anne Comeau, University of Massachusetts.