Learn more:
• Cone-rod dystrophy 1 (cord1 – PRA / PRA - crd4)
• Familiar Nephropathy (FN)
• Fucosidosis
• Phosphofructokinase deficiency (PFKD)
• Acral mutilation syndrome (AMS)
DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.