This two-day workshop focused on technical methods for detecting Pompe disease and other Lysosomal Storage Disorders from newborn dried blood spots, including both mass spectrometric and fluorometric enzyme function assays. The workshop also discussed quality assurance support and the availability of reagents provided by the CDC.  

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

Thursday, April 16

Newborn Screening for Pompe and Other Lysosomal Disorders
-Robert Vogt, Centers for Disease Control and prevention
CLSI Census Committee on Newborn Screening
-Harry Hannon, CLSI Chairperson
FIA-MS/MS: Reference Method
-Hui Zhou,  Centers for Disease Control and Prevention
FIA-MS/MS: Experience at the Chinese Foundation of Health
-Hsuan-Chieh Liao, Chinese Foundation of Health
FIA-MS/MS Fully-Multiplexed Assays
-Ronald Scott, Washington State NBS Laboratory
FIA-MS/MS: Triplexed Lysosomal Enzyme Function Assays and X-ALD Detection
-Joseph Orsini, NYS Department of Health
LC-MS/MS: Multiplexed Assays to detect 5 LSDs
-George Dizikes, Illinois Department of Public Health
Fluorometric Methods Overview
-Paul Dantonia, NSTRI and Robert Vogt, Centers for Disease Control and Prevention
Microtiter Plate Fluorometry
-Sara Shu-Chuan Chiang, National Taiwan University Hospital

Friday, April 17

Digital Microfluidic Fluorometry
-Patrick Hopkins, Missouri NBS Laboratory
Updates from NYS NBS Program
-Joseph Orsini, NYS Department of Health
Updates from Missouri NBS Program
-Patrick Hopkins, Missouri NBS Laboratory
Updates from Washington NBS Program
-John Thompson, Washington State Department of Health
Updates from Wisconsin NBS Program
-Mei Baker, University of Wisconsin-Madison
Workshop Summary
-Dietrich Matern, Mayo Clinic