The global next-gen sequencing (NGS) for rare disease diagnosis market is expanding rapidly due to the increasing use of NGS in diagnosing rare genetic disorders such as cystic fibrosis and Duchenne muscular dystrophy, which affect about 1 in 12 individuals globally. NGS technologies, such as whole genome and exome sequencing, enable accurate detection of mutations, driving better clinical outcomes and personalized treatments. With rising awareness and research into rare diseases, NGS is becoming essential for diagnosing complex neurological and genetic conditions, especially in regions such as North America, Europe, and Asia-Pacific.
