Learn more:

•      Cone-rod dystrophy 1 (cord1 – PRA / PRA - crd4)

•      Cone-rod dystrophy 2 (cord2 – PRA / crd - PRA)

•      Neuronal ceroid lipofuscinosis 1 (NCL-1)

•      Osteogenesis imperfecta (OI)

•      Chondrodysplasia, chondrodystrophy and degeneration of intervertebral discs (CDPA/CDDY – IVDD)

•      Neuronal ceroid lipofuscinosis 2 (NCL-2)

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.