CLSI NBS07 : 1ED 2017

Abstract
Committee Membership
Foreword
Chapter 1 - Introduction
Chapter 2 - Biological and Clinical Features of Pompe Disease
Chapter 3 - Overview of Acid alpha-Glucosidase Activity
            Assay to Detect Pompe Disease
Chapter 4 - Implementing Acid alpha-Glucosidase Activity
            Assays
Chapter 5 - Follow-up Activities, Communication, and Diagnostic
            Testing
Chapter 6 - Conclusion
Chapter 7 - Supplemental Information
References
Additional Resources
Appendix A - Ultra-High-Performance Liquid Chromatography-Tandem
             Mass Spectrometry Assay for Lysosomal Acid
             alpha-Glucosidase Activity Measurement
Appendix B - Proficiency Testing Results on Dried Blood Spots
             Simulating Typical Newborns and Newborns With
             Pompe Disease
Appendix C - Examples of Newborn Dried Blood Spot Screening
             Algorithms for Pompe Disease
Appendix D - Pompe Disease-Specific Common Data Elements
The Quality Management System Approach
Related CLSI Reference Materials

Defines the detection of Pompe disease (PD) by population-based newborn screening using dried blood spot specimens to measure acid a- glucosidase enzyme activity. Classic infantile-onset PD is a lethal disorder that is not evident at birth, and therapy effectiveness is improved by presymptomatic detection.

This report discusses the detection of Pompe disease (PD), also known as glycogen storage disease type II, by population-based newborn dried blood spot (DBS) screening, and focuses on enzyme activity assays for detecting PD. It is intended to provide information for incorporating PD newborn DBS screening into the routine operations of existing newborn screening (NBS) programs.This report includes background information on the biological and clinical features of PD, a lysosomal storage disorder (LSD). It provides descriptions of the different enzyme activity assays for PD and discusses preanalytical, analytical, and postanalytical issues for laboratory practices (see Subchapter 1.4.1). Also, the report includes a discussion of short-term and long-term follow-up (LTFU) procedures, including case tracking, as well as the diagnostic tests needed to confirm a PD diagnosis. It contains limited discussion of LSDs other than PD for which DBS-based enzyme activity assays exist, including Gaucher disease, Fabry disease, Krabbe disease, and Niemann-Pick disease type A/B.The intended users of this report are NBS laboratory personnel, public health program personnel, followup programs, health care professionals, those involved with oversight of NBS testing, and manufacturers of NBS instruments, reagents, and related products.This report does not cover:· DBS specimen collection for PD newborn DBS screening (see CLSI document NBS015) · Enzyme activity assays for newborn DBS screening of LSDs other than PD · Immunoreactive assays for LSD detection,6 because the reagents are not generally available · Method performance comparisons of assays currently used for PD newborn DBS screening