Sponsored diagnostic testing programs for Alpha-Mannosidosis
3 programs found for Alpha-Mannosidosis
The Alpha-Mannosidosis Genetic Testing Program offers no-charge genetic testing through GeneDx for US patients with a clinical suspicion of alpha-mannosidosis. Testing uses GeneDx's GenomeDx whole genome sequencing, focused on the MAN2B1 gene. The program is sponsored by Chiesi Group, which covers all testing costs for eligible patients.
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.
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.
