While Whole Exome Sequencing (WES) is widely adopted as a first-line clinical technique for genetic disease detection, it has limitations in identifying complex variations such as structural variants, dynamic mutations, pseudogenes, and genetic imprinting disorders. Nanopore sequencing, on the other hand, offers significant technical advantages in detecting insertions, deletions, duplications, inversions, and translocations. This makes it particularly valuable for diagnosing high-prevalence and complex monogenic disorders, such as thalassemia, Fragile X syndrome (FXS), and congenital adrenal hyperplasia (CAH).