Contribution of the NGS analysis to the hyperCKemia


Genetic study using new generation techniques (NGS) is a tool that is increasingly being used in the diagnosis of myopathies. However, its usefulness in hyperCKemia (HCK) is not known. The aim is to evaluate the diagnostic performance of a panel of genes potentially involved in HCK. We studied 138 patients that remained undiagnosed after performing all the steps of the EFNS guidelines over a series of 371cases with pauci-or-asymptomatic HCK. Ion Torrent technology was applied to a home designpanel of 40 genes (LGMD / myofibrillar / glycosylation),which allows to study the genecoding and intronic flanking regions.


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