2016 Molecular Training Workshop

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
Rachel Lee, Texas Department of State Health Services

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

 Monday, April 25

Course Outline an​d Objectives

- Rachel Lee, Texas State Department of Health Services

Overview of Molecular NBS

- Michele Caggana, NYS Department of Health

 DNA Extraction and Quantitation Methods

- Suzanne Cordovado, Centers for Disease Control and Prevention

Molecular Methods Used in Genotyping

- Carlos Saavedra-Matiz, NYS Department of Health Services

Molecular NBS - the RUSP and beyond

- Michele Caggana, NYS Department of Health

Tuesday, April 26

 Overview of SCID and the TREC Assay & NSQAP/NSTRI services

- Francis Lee, Centers for Disease Control and Prevention

Case Study of Molecular Assay Validation: TREC NBS Dried Spots Using Real-Time PCR & Subsequent Monitoring

- Sherly Pardo- Reoyo, Puerto Rico Newborn Screening Program

 Overview of Cystic Fibrosis, genotyping methods and NSQAP services

- Suzanne Cordovado

Data Reporting and Clinical Interpretation

- Anne Comeau, University of Massachussetts Medical School

 Wednesday, April 27

Case Study of Molecular Assay Validation: 2nd Tier Qualitative Screening & Subsequent Monitoring

- Rachel Lee, Texas State Department of Health Services

Lab Math: Primer Prep & Dilution

- Carlos Saavedra- Matiz, NYS Department of Health

Thursday, April 28

 Next Generation Sequencing in NBS

- Suzanne Cordovado, Centers for Disease Control and Prevention

Molecular lab design, QA/QC Considerations

- Rachel Lee, Texas State Department of Health Services

Molecular Assessment Program

- Chris Greene, Centers for Disease Control and Prevention

NBS Molecular Resources Website

- Laura Hancock, Centers for Disease Control and Prevention

Friday, April 29

Course Exam

Q/A of lab issues