Learn more:
• Factor VII deficiency (FVII)
• Myotonia congenita (MC)
• Progressive retinal atrophy (PRA B1)
• Charcot-Marie-Tooth (CMT) disease
• Comma Defect (Spondylocostal dysostosis, SCD)
DNA test pample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.