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Roadmap2Rare Diagnostic Program

Roadmap2Rare Diagnostic Program

The Roadmap2Rare Diagnostic Program is a complimentary genetic and biochemical testing program available to Canadian clinicians. It is offered by Sanofi Canada working in collaboration with Revvity Omics. This sponsored program is made available to address unmet testing needs in the rare disease space.

The Roadmap2Rare Diagnostic Program covers the cost of testing for several Lysosomal Storage Disorders, including Pompe, Fabry, Gaucher, ASMD, and MPS-I. The program also includes coverage for two NGS multi-gene panels. The Muscle Disorders Panel covers 122 genes and is available for patients who show laboratory evidence suggestive of a muscle pathology, in addition to at least one of: muscle weakness, unexplained respiratory insufficiency, or other symptom(s) supporting muscle involvement (e.g., exercise intolerance, rhabdomyolysis, myalgia). The Hypertrophic Cardiomyopathy (HCM) Panel contains 60 genes and is available for patients who have unexplained cardiomyopathy or cardiac arrhythmia, or who have a confirmed family history of HCM of unknown origin.

The Roadmap2Rare Diagnostic Program is not intended to and should not interfere in any way with a health care professional’s or patient’s independent judgement and freedom of choice in the testing and treatment options for these diseases. Health care professionals and patients should always consider the full range of testing and treatment options and select those most appropriate for the individual patient.

For more information about Sanofi Canada’s other sponsored Roadmap2Rare services, click here.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location. The content on this page is provided for informational purposes only, not as medical advice. It is not intended to substitute the consultation, diagnosis, and/or treatment provided by a qualified licensed physician or other medical professionals.

Contact Revvity Omics for more information