Mucopolysaccharidosis Type I (MPS I) (Hurler-Scheie Syndrome)

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.

Ultragenyx’s no-cost MPS pathway supports evaluation of suspected MPS I, II, IIIB, IVA, IVB, VI, and VII via an enzyme panel with reflex molecular testing as appropriate. Performed by Revvity Omics, the program is intended for symptomatic or NBS-flagged patients and is not designed for carrier screening.

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.