Due to genetic heterogeneity and overlap in symptoms, genetic testing for neurodegenerative diseases (NDs) is very difficult. Next-generation sequencing (NGS) and targeted-gene panels (TGPs) can make it easier to profile a wide range of ND-related genes. Short tandem repeat (STR) variations are frequently disregarded because of the technological constraints of NGS and TGPs. However, NDs like Huntington's disease and type 3 spinocerebellar ataxia are known to be caused by STR expansions (SCA3).
A predetermined collection of targeted Gene Panel can be utilised to identify the disease-causing mutation once patients have been clinically diagnosed. Contrarily, WGS and WES generate a significant number of variations with ambiguous significance or accidental results, which makes it more difficult to evaluate them in a clinical situation.
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