In conducting diagnostic molecular genetic testing for an affected boy with suspected Duchenne Muscular Dystrophy (DMD), a genetic test for deletion/duplication analyses of the DMD gene does not reveal a pathogenic mutation/variant. What would the next likely testing option include? The Value of Next Generation Sequencing (NGS) in Diagnostic Molecular Genetic Testing for Duchenne Muscular Dystrophy

The Value of Next Generation Sequencing (NGS) in Diagnostic Molecular Genetic Testing for Duchenne Muscular Dystrophy

In the case of an affected boy with suspected Duchenne Muscular Dystrophy (DMD), a genetic test for deletion/duplication analyses of the DMD gene is often the first step in the diagnostic process. However, when such a test does not reveal a pathogenic mutation or variant, the next likely testing option is Next Generation Sequencing (NGS). NGS technology has revolutionized the field of genetic testing, providing a faster and more cost-effective way to sequence large portions of the human genome (Perez-Morga et al., 2020). NGS can be used to sequence the DMD gene, which contains 79 exons and is prone to mutations and structural variants. NGS is particularly useful for identifying novel or rare variants, which are often difficult to detect using traditional testing methods (Li et al., 2016). NGS can also be used to analyze multiple genes in a single test, which is beneficial when there is suspicion of multiple genetic disorders (Chan et al., 2021). Cont…