New to molecular testing? This 4 minute video illustrates the path a healthcare provider takes when ordering diagnostic testing for a lysosomal storage disease for the first time, and offers tips along the way. click here
MDA Symposium 2021 - Challenges of Newborn Screening for Neuromuscular Disorders - The Pompe Disease Experience: This 90-minute recorded symposium is presented by Barry Byrne, MD, PhD, Associate Chair of Pediatrics and Director of the Powell Gene Therapy Center at University of Florida, and by Jean Flickinger, PT, DPT, PCS, Physical Therapist at Children's Hospital of Philadelphia. The presentation discusses the history and challenges of newborn screening for neuromuscular disorders, reviews the pathophysiology of Pompe disease, and characterizes the assessments (including motor assessments), management and monitoring for newborns who screened positive for Pompe disease. click here
Pathophysiology of Pompe Disease This 4-minute explainer video reviews the pathophysiology of Pompe disease. click here
AANEM 2020 - Clinically Meaningful Assessments for Neuromuscular Disorders - Focus on Pompe Disease: This 59-minute recorded symposium is presented by Matthew P. Wicklund, MD, Professor of Neurology at the University of Colorado School of Medicine. Dr. Wicklund reviews the pathophysiology of Pompe disease, discusses current diagnosis and clinically meaningful assessments in genetic muscle disease to monitor disease progression, and features illustrative cases on diverse clinical manifestations in Late Onset Pompe Disease (LOPD). click here
Newborn Screening for Pompe Disease: Interactive Diagnostic Algorithm as Recommended by the Pompe Disease Newborn Screening Working Group
Pompe Disease 101: An overview of Pompe Disease, including pathophysiology, disease spectrum, challenges in diagnosis, and testing and disease registry resources for providers.
Pompe Disease Summary: A brief synopsis of disease spectrum, diagnosis, and NBS algorithms in a one page brochure format.
Diagnosing Pompe Disease: Click here to open our full Pompe testing brochure for an overview of incidence, evaluations for diagnosis, and a selection of laboratories offering both GAA enzyme assay (acid α-glucosidase) and GAA sequencing.
Limb-Girdle Muscle Weakness: Click here for more information on Limb-girdle muscle weakness (LGMW), a heterogenous group of disorders that share considerable phenotypic overlap with Late Onset Pompe Disease (LOPD). This brochure provides an overview of incidence, evaluations for diagnosis, and a selection of laboratories offering gene panels for limb-girdle muscle weakness.
This is not an exhaustive list of labs, or an endorsement of any one lab. Other testing options can be found at www.concertgenetics.com (free login required) or www.ncbi.nlm.nih.gov/gtr. Sanofi Genzyme does not review or control the content of non-Sanofi Genzyme websites. These listings do not constitute an endorsement by Sanofi Genzyme of information provided by any other organizations. Tests may not be available in all states. Please contact the laboratory to confirm test availability, sample shipping information, and all other logistics.
Sanofi Genzyme does not review or control the content of non-Sanofi Genzyme websites. These listings do not constitute an endorsement by Sanofi Genzyme of information provided by any other organizations.
Concert Genetics (free login required): www.concertgenetics.com
Genetic Home Reference: https://ghr.nlm.nih.gov/condition/pompe-disease
Association for Glycogen Storage Disease: https://www.agsdus.org
National Organization for Rare Diseases: https://rarediseases.org/rare-diseases/pompe-disease/
Last Updated: Apr 28, 2021