Sanofi Rare Diseases Medical
Gaucher Disease
Genetic Testing and Genetic Counseling:
This clinical monograph summarizes the insights and real-world best practices collected during an Advisory Council Meeting on genetic testing and genetic counseling held in August 2022 with experienced practice providers from across the United States.
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Lysosomal Storage Disease Biomarkers:
This clinical monograph summarizes the insights and real-world best practices collected during an Advisory Council Meeting on obtaining and evaluating biomarkers for lysosomal storage disorders held in August 2023 with experienced practice providers from across the United States.
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ASMD and Gaucher Disease Diagnosis
This brochure provides more information on testing for Gaucher disease and ASMD, historically known as Niemann-Pick A and B, including incidence, patient classification, evaluations for diagnosis, and a selection of laboratories offering Gaucher disease enzyme assay (β-glucosidase or glucocerebrosidase), ASM enzyme assay (acid sphingomyelinase), and/or GBA and SMPD1 sequencing, respectively.
The link provided does not contain 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.
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Gaucher Disease Biomarker: Lyso-GL-1
This brochure provides information on testing for glucosylsphingosine (Lyso-GL-1, Lyso-GB-1), a biomarker for glucocerebrosidase enzyme deficiency that is detectable in the blood of patients with Gaucher disease.
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Gaucher Schedule of Assessments
This is the minimum recommendations for monitoring patients with non-neuronopathic (Type 1) Gaucher Disease as determined by the International Collaborative Gaucher Group (ICGG) Board of Advisors.
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GD3 Brochure
This brochure provides education on Gaucher Disease Type 3 (GD3): a neuronopathic form of Gaucher Disease.
National Society of Genetic Counselors (NSGC) 2025 Symposium
In this symposium " When Carrier Testing Reveals a Twist: Navigating the Unexpected Parental Diagnosis," recorded November 2025, Ryan Kuehl, MGC, CGC (St. Peter's University Hospital) and Samantha Seymour, MS CGC (University of Colorado) discussed the following topics:
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American Society of Human Genetics (ASHG) 2025 Symposium
In this symposium “Addressing diagnostic delays for Rare Disease patients: Lessons from patient journeys,” recorded October 2025, Jaya Ganesh, MD and Luca Fierro, PhD, MS, CGC (Mount Sinai School of Medicine) discussed the following topics:
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Fabry patient journey: Results of claim analysis
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Conclusions and Clinical Implications - Case and Claims Analysis
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“Decoding Splenomegaly: Precision Diagnostics Across Age Spectrum” Symposium
In this symposium recorded December 2025, Harry Layton Lesmana, MD, FAAP, FACMG (Cleveland Clinic) discussed the following topics:
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Understanding Splenomegaly—A Systems-Based Framework
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Diagnostic Algorithm for Splenomegaly Using Precision Medicine
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Best Practices for Genetic Testing in Splenomegaly
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WORLDSymposium 2026 – Gaucher Disease
In this symposium "Biomarkers in Gaucher Disease: A Critical Dialogue on Patient Care Evolution Through Clinical Cases," recorded February 2026, Manisha Balwani, MD, MS, FACMG (Ichan School of Medicine at Mount Sinai), Fatih Ezgü, MD (Gazi University Faculty of Medicine), and Nicolás Fernández Escobar, MD (Hospital de Niños “Ricardo Gutierrez”) discussed the following topics:
Biomarker Landscape in Gaucher Disease and Clinical Utility of Lyso-GL1 with Dr. Manisha Balwani
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Long-term Disease Monitoring with Biomarkers in Patient Care with Dr. Fatih Ezgü
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Optimizing management with Biomarkers: Bone Health in Gaucher Disease with Dr. Nicolás Fernández Escobar
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Rare Diseases University
This comprehensive educational initiative is a physician need–oriented, interactive, and virtual platform designed for healthcare professionals around the world who are committed to advancing their knowledge and leadership in rare lysosomal storage diseases.
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.
National Gaucher Foundation
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Gaucher Community Alliance
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National Organization for Rare Disorders
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Genetic Testing Registry
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Gene Reviews
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Genetic Home Reference
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Sanofi Medical Information
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Patient Registry
The Gaucher Registry (sponsored by Sanofi) is the world's largest cooperative observational study on Gaucher disease. The International Collaborative Gaucher Group (ICGG) established the registry in 1991 as a longitudinal database tracking outcomes of routine clinical practice. Since its approval, clinical data has been collected on over 6000 patients with Gaucher disease. All patients with a confirmed diagnosis of Gaucher disease are eligible for inclusion. By enrolling patients in the registry, participating physicians have the ability to receive patient-specific reports to monitor disease status and access information on current treatment guidelines and practice patterns.
Since 1991, enrollment in the Gaucher Registry has grown steadily with increased numbers of physicians submitting data on more patients from a larger number of countries around the world. The participation of so many physicians, healthcare advocates, and patients has enabled the Gaucher Registry to help change the perspective and management of Gaucher disease.
Data from the Gaucher Registry provides insight into Gaucher disease, thus supporting the publication of many scientific articles. Each of these publications has helped to increase the understanding of Gaucher disease in areas including natural history, diagnosis, treatment, and management.
For more information on the Gaucher Registry, visit our website.