American Association of Kidney Patients (AAKP) has partnered with Emory University to provide complimentary genetic testing for individuals at-risk and families affected by Fabry Disease. AAKP and Emory are able to provide this free service and Fabry disease education thanks to contributions from Sanofi-Genzyme, Inc., and Amicus Therapeutics – companies known for their expertise and commitment in the area of rare genetic diseases.
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.