Limb Girdle Muscular Dystrophy (LGMD)

The Detect Muscular Dystrophy Program offers sponsored, no-charge genetic testing and post-test counseling for patients with suspected Duchenne muscular dystrophy, limb-girdle muscular dystrophy, or related neuromuscular disorders. The program is designed to improve access to diagnostic testing, reduce delays in identifying disease etiology, and support clinicians with information that can guide treatment planning and patient counseling.

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.

This program offers no-cost access to a 55-gene panel for patients with symptoms that may indicate TK2 deficiency (TK2d), mitochondrial DNA depletion syndromes (MDS), or LGMD-like presentations with unclear etiology. Because TK2d can clinically overlap with both MDS and LGMD, this broader panel supports efficient evaluation across these disorders. Testing is available at no cost for eligible U.S. patients.