Included tests:

• Centronuclear Myopathy (CNM)
• Degenerative Myelopathy (DM)
• Exercise-Induced Collapse (EIC)
• Glycogen Storage Disease VII (GSDVII)
• Hereditary Nasal Parakeratosis (HNPK)
• Hyperuricosuria (HUU)
• Macrothrombocytopaenia
• Neonatal Encephalopathy with Seizures (NEWS)
• Progressive Retinal Atrophy (PRA-PRCD)
• Skeletal Dysplasia (SD2)
• Von Willebrand Disease 1 (VWD1)