Sanofi Canada is working in collaboration with PerkinElmer Genomics to offer the Roadmap2Rare Diagnostic Program – a complimentary genetic and biochemical testing program available to Canadian clinicians. The program provides diagnostic testing for the following disorders (click on the disorder to learn more about the disease, the supporting test(s), and how to order it):
- Pompe Disease
- Fabry Disease
- Gaucher Disease
- Niemann-Pick Type A and B (ASMD)
- Mucopolysaccharidosis I (MPS I)
- Muscle Disorders Panel
- Hypertrophic Cardiomyopathy Panel
Please click here for a list of frequently asked questions about the Roadmap2Rare Diagnostic Program. For more information about Sanofi Canada’s other sponsored Roadmap2Rare services, click here.
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 health care professionals already familiar with the above-listed disorders, feel free to use the links below to order a kit or submit a sample.
About Lysosomal Storage Disorders
The lysosomes are required for the breakdown of intracellular molecules and compounds of all sizes. The lysosomal interior is an acidic environment and contains several different enzymes. Defects in these lysosomal enzymes result in an accumulation of the substrate in the lysosome eventually disrupting tissue function leading to enlarged and impaired organs. The affected cell systems will vary with the disorder, but all disorders involve multiple organ systems.
Suspicion of a lysosomal storage disorder can come from the physical exam (e.g. organomegaly, skeletal abnormalities, corneal clouding, or coarse features) and developmental assessment. Developmental delay with regression and/or organ dysfunction that is progressive is a hallmark of a storage disorder. Progressive cardiac, renal, hematological, or nervous system dysfunction occurring in a younger population than is typical would also prompt consideration of these disorders (e.g. renal disease, arrhythmias, valve disease, stroke, and peripheral neuropathy).
There is usually a continuum of severity and LSDs without obvious dysmorphic features or developmental delay are underrecognized. Due to the overall rarity of these conditions and their clinical heterogeneity, lengthy diagnostic delays and missed diagnoses are common.