- Degenerative myelopathy (DM)
- Neonatal encephalopathy (NE)
- Progressive retinal atrophy (PRA-PRCD)
- Progressive retinal atrophy (PRA-RCD4)
- Von Willebrand disease type I (VWD1)
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.