Status of Newborn Screening for Lysosomal Storage Disorders in Wisconsin
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1 Status of Newborn Screening for Lysosomal Storage Disorders in Wisconsin Technical Workshop on Methods to Detect Pompe Disease and other Lysosomal Storage Disorders (LSDs) by Newborn Bloodspot Screening Atlanta, Georgia April 16 17, 2015 Mei Baker, MD, FACMG Co-Director, Newborn screening Laboratory at WSLH Associate Professor, Department of Pediatrics at UWSMPH University of Wisconsin-Madison
2 Relevant Facts NIH funded Pompe NBS pilot study NBS for six LSD bill was introduced Krabbe, Fabry, Pompe, Niemann Pick, Gaucher, and MPS I Possibility of implementing routine NBS for Pompe Secretary s letter regarding Pompe recommendation to the RUSP The Newborn Screening Saves Lives Reauthorization Act WISCONSIN ABORATORY OF HYGIENE - UNIVERSITY OF WISCONSIN
3 Analytic Accuracy: Manufacturer QC Samples All 120 QCL data points were within 3 SD of the manufacturer provided range. One in total 120 QCH data points exceeded upper 3 SD of the manufacturer provided range by 2% One in total 96 QCM data points was below lower 3 SD of the manufacturer provided range by 4%
4 Analytic Precision Manufacturer QC Samples CDC QC Samples QCL QCM QCH QCL QCM QCH CV 1-5% CV % CV % CV % * 0 0 Total * % and 16.22%
5 Analytic Reproducibility Manufacturer QC Samples CDC QC Samples QCL QCM QCH QCL QCM QCH CV 1-5% CV % CV % CV % * 0 0 Total * 15.75%
6 Instrument Comparison Manufacturer QC Samples CDC QC Samples QCL QCM QCH QCL QCM QCH Stella Audrey Roland Gregor Peyton Clara Mean SD CV (%)
7 Analytic Linearity
8 Normal Range Study Total 8,315 de-identified residual NBS specimens. Eight samples were deemed assay failure The sample mean is 32.04, and the sample median is sample with GAA less than 7.1 ( )
9 Normal Range Study
10 Clinical Validity ID WI GAA MO GAA MO GAA at Date of Reported Confirmatory Result Initial Assessment MO NA Normal likely in-range MO NA Normal likely in-range MO NA Normal likely in-range MO NA Normal likely in-range MO NA Normal likely in-range MO NA Normal likely in-range MO NA Normal likely in-range MO NA Normal likely in-range MO NA Normal likely in-range MO NA Normal likely in-range MO NA Normal likely in-range MO NA Normal likely in-range MO NA Normal likely in-range
11 Clinical Validity ID WI GAA MO GAA MO GAA at Date of Reported MO MO MO Confirmatory Result Pompe, classical infantile Pompe, classical infantile Pompe, nonclassical infantile Initial Assessment
12 Clinical Validity ID WI GAA MO GAA MO GAA at Date of Reported MO MO MO MO MO MO MO Confirmatory Result Pompe, late onset Pompe, late onset Pompe, late onset Pompe, late onset Pompe, late onset Pompe, late onset Pompe, late onset Initial Assessment duplicates, uncertain duplicates, uncertain duplicates, uncertain
13 Clinical Validity ID WI GAA MO GAA MO GAA at Date of Reported MO MO MO Confirmatory Result Pompe, w/ unknown significance genotype Pompe, w/ unknown significance genotype Pompe, unknown onset Initial Assessment likely in-range
14 Clinical Validity ID WI GAA MO GAA MO GAA at Date of Reported MO MO MO MO Confirmatory Result Pseudodefici ency Pseudodefici ency Pseudodefici ency Pseudodefici ency Initial Assessment duplicates, uncertain
15 Clinical Validity ID WI GAA MO GAA MO GAA at Date of Reported MO MO Confirmatory Result Pompe carrier Pompe carrier Initial Assessment likely in-range
16 Acknowledgements This work is funded by NIH/NICHD (HHSN c) Patrick Hopkins and Tracy Klug, Missouri State Public Health Laboratory Bob Vogt and Hui Zhou, Newborn Screening and Molecular Biology Branch at CDC Staff at the Newborn Screening Laboratory
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