In collaboration with Revvity Omics (formerly PerkinElmer Genomics), Sanofi Canada has launched the Roadmap2Rare Diagnostic Program, a sponsored testing program that covers enzymatic activity, biomarker, and genetic testing for several rare lysosomal storage diseases. The program also provides access to multi-gene panels that include common differential diagnoses for Pompe and Fabry disease. Metabolic genotyping for Gaucher disease type 1 (when applicable to certain treatment considerations) is available separately in collaboration with ARCHIMEDlife.
Launched by Sanofi Genzyme with PerkinElmer Genomics (now Revvity Omics), The Lantern Project provides no-cost testing for patients whom physicians suspect may be suffering from Gaucher disease, Fabry disease, Pompe disease, mucopolysaccharidosis type I (MPS I), or acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A and B. Additionally, there is the option of an enzyme panel for seven mucopolysaccharidoses and a 105 gene panel for limb-girdle muscular dystrophies (LGMD) and other myopathies.
Ultragenyx is partnering with Revvity Omics to offer sponsored, no-charge testing for MPS. This sponsored program uses dried blood spot punches to measure enzyme deficiency from an MPS enzyme panel and in cases of β-glucuronidase deficiency, GUSB gene sequencing is performed.
Mirum Pharmaceuticals has partnered with PreventionGenetics to offer a no-cost genetic testing program to help identify peroxisome biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD) through a 13-gene panel. This program is available for patients in the US who meet eligibility criteria and must be ordered by a qualified healthcare provider.
