Pompe Patient Interactive: Can you diagnose Pompe Disease? This self-guided, interactive activity allows healthcare providers to review clinical profiles for four different patients and select which patient(s) may have Pompe Disease. The activity includes additional resources on disease signs and symptoms, and a diagnosis algorithm.
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: Dec 21, 2019