Sponsored diagnostic testing programs for Fabry Disease
Fabry disease is a rare X-linked lysosomal storage disorder caused by deficiency of the enzyme α-galactosidase A. This leads to progressive accumulation of globotriaosylceramide (GL-3) in multiple organs, including the kidneys, heart, and nervous system. Symptoms vary widely but may include neuropathic pain, angiokeratomas, gastrointestinal issues, cardiac hypertrophy, kidney dysfunction, and stroke risk. Early diagnosis is critical, as targeted therapies can slow or modify disease progression.
4 programs found for Fabry Disease
The Invitae Unlock™ Cardiomyopathy & Arrhythmia program offers no-charge genetic testing for U.S. patients with suspected inherited cardiomyopathy or arrhythmia. The comprehensive panel supports diagnostic clarification, risk assessment, and family variant identification. Eligible patients may access testing at no cost when ordered by a qualified healthcare provider.
The Detect Lysosomal Storage Diseases Program provides no-charge genetic testing for patients in the US or Canada when an LSD is suspected. Eligible patients may present with clinical features, abnormal enzyme studies, positive newborn screens, or relevant family history. Testing through Invitae’s LSD panel can help confirm diagnosis and guide management.
Roadmap2Rare (Canada) provides complimentary genetic and biochemical testing for suspected rare diseases, delivered by Revvity Omics in collaboration with Sanofi Canada. The program is designed to address unmet testing needs and is available to Canadian clinicians. Test selection and treatment decisions remain at the discretion of the healthcare professional.
The Lantern Project provides sponsored genetic testing for patients with suspected lysosomal storage diseases (LSDs). LSDs are multisystem disorders caused by impaired lysosomal function and often present with overlapping features. This program supports timely diagnosis by offering testing options for major conditions including Gaucher, Fabry, Pompe, and multiple MPS subtypes.
