Muscular dystrophy patient's panel based sequence data. Homo sapiens

Muscular Dystrophies (MDs) are a group of inherited disorders and heterogeneous in nature. To date, 40 different genes have been reported for MDs. Therefore, accurate sub-type specific diagnosis is possible, provided all the genes are sequenced parallel. In this line, this study was conducted to demonstrate the practical applicability of next generation sequencing (NGS) in developing a time-saving and cost-effective diagnostic method to detect Small Nucleotide Variations (SNVs) and Copy Number Variations (CNVs) in a single analysis. This study demonstrates the utility of disease-specific targeted amplicon panel to identify CNVs as well as SNVs. A diagnostic rate of 70.73% using a single diagnostic test can be a benchmark towards the goal of high throughput, low cost, and time-saving diagnostic strategy.