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

Next Generation Sequencing (NGS), Diagnostic Molecular Genetic Testing For Duchenne Muscular Dystrophy

A genetic test to determine if a boy has Duchenne Muscular Dystrophy is necessary in order for the diagnosis of DMD (duplication/deletion) to be made. Next Generation Sequencing is the next option if the genetic test fails to reveal any pathogenic variants or mutations. NGS technology revolutionized genetic testing. It allows for faster, more affordable sequencing of large parts of the human genome. Perez-Morga and colleagues, 2020. NGS can also be used to sequence DMD’s gene. This gene has 79 exons. NGS allows for mutations as well as structural variants to occur. NGS can be used to identify rare or novel variants that are difficult to find using conventional testing (Li and al., 2016). NGS can also analyze multiple genes simultaneously, which makes it useful when multiple genetic conditions are suspected (Chan et. al., 202). Cont…

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