Additional Materials
Videos
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.
MDA Symposium 2021 - Challenges of Newborn Screening for Neuromuscular Disorders - The Pompe Disease Experience
In this symposium, Dr. Barry Byrne (Powell Gene Therapy Center at University of Florida, Florida, FL) and Jean Flickinger (Children's Hospital of Philadelphia, Philadelphia, PA)
discussed the following topics:
Pathophysiology of Pompe Disease
This 4-minute explainer video reviews the pathophysiology of Pompe disease.
AANEM 2020 - Clinically Meaningful Assessments for Neuromuscular Disorders - Focus on Pompe Disease
In this symposium, Dr. Matthew P. Wicklund (University of Colorado School of Medicine, Aurora, CO) discussed the following topics:
Interactive
Newborn Screening for Pompe Disease
Interactive diagnostic algorithm as recommended by the Pompe Disease Newborn Screening Working Group.
Slides
Pompe Disease 101
An overview of Pompe disease, including pathophysiology, disease spectrum, challenges in diagnosis, and testing and disease registry resources for providers.
Brochures
Pompe Disease Summary
A brief synopsis of disease spectrum, diagnosis, and newborn screening algorithms in a 1-page brochure format.
Diagnosing Pompe Disease
Our full Pompe testing brochure includes 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
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 LGMW.
This is not an exhaustive list of labs, or an endorsement of any one lab. Other testing options can be found at https://www.concertgenetics.com (free login required) or https://www.ncbi.nlm.nih.gov/gtr. Sanofi does not review or control the content of non-Sanofi websites. These listings do not constitute an endorsement by Sanofi 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.
Websites
Sanofi does not review or control the content of non-Sanofi websites. These listings do not constitute an endorsement by Sanofi of information provided by any other organizations.
Concert Genetics (free login required): https://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 Disorders: https://rarediseases.org/rare-diseases/fabry-disease/
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