Additional Materials

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.

HCM-Fabry Cardiac Disease Symposium

In this on-demand virtual symposium "Highlighting Hypertrophic Cardiomyopathy and Fabry Cardiac Disease", recorded on November 20, 2020, Dr. Gavin Y. Oudit (University of Alberta, Edmonton, AB, Canada), Dr. Martin Maron (Tufts Hypetrophic Cardiomyopathy Center and Research Institute, Boston, MA), and Dr. John Lynn Jefferies (Methodist University of Tennessee Cardiovascular Institute, Memphis, TN) discussed the following topics:

Renal Genetics Fabry Nephropathy

In this on-demand virtual symposium " Big Data Spotlights Renal Genetics and Pathway to Identifying Rare Kidney Diseases", recorded on November 23, 2020, Dr. Michael L. West (Division of Nephrology, Department of Medicine, Dalhousie University, Halifax, NS, Canada) discussed the following topics:​​​​​​

Rare Diseases University

This comprehensive educational initiative is a physician need-oriented, interactive and virtual platform designed for healthcare professionals (HCPs) around the world who are committed to advancing their knowledge and leadership in rare lysosomal storage diseases.

Fabry Disease Overview:

An overview of Fabry Disease, including pathophysiology, disease presentation and progression, challenges in diagnosis, and testing and disease registry resources for providers.

Kidney Panel Testing One-Pager

This brochure provides information on chronic kidney disease (CKD) as a condition characterized by gradual loss of kidney function over time. Patients with Fabry disease can present with isolated CKD or with CKD in conjunction with additional signs and symptoms such as bradycardia, left ventricular hypertrophy, cardiac arrhythmias, heart failure, strokes, neuropathic and gastrointestinal pain, hearing loss, and angiokeratomas.

Diagnosing Fabry Disease:

For more information on testing for Fabry disease, including incidence, patient classification, evaluations for diagnosis, and a selection of laboratories offering both α-GAL A enzyme assay and GLA sequencing, click to open our full testing brochure.

This is not an exhaustive list of labs, or an endorsement of any one lab. Other testing options can be found at (free login required) or 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.

Fabry Disease Biomarker: Lyso-GL3:

For information about the Fabry disease biomarker lyso-GL3 (lyso-Gb3), and testing options, please click to see our brochure.


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):

Genetic Home Reference:

Fabry Support and Information Group:

National Fabry Disease Foundation:

National Organization for Rare Disorders:

Patient Registry

The Fabry Registry, a program sponsored and administered by Sanofi, was created in 2001 to gather information to improve the understanding and evaluate the treatment of Fabry disease. It is the largest patient registry dedicated to Fabry disease.

Because Fabry disease is rare, it can be difficult to collect information about it and its impacts on different people. The Fabry Registry is a global, obeservational database for gathering this critical information. All people who have Fabry disease are eligible to participate, regardless of whether they are on treatment.

For more information on The Fabry Registry, visit our website at

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