The Impact of Panel Size in Next Generation Sequencing in Pediatric Epilepsy

NeuropediatricsAbstracts of the 45th Annual Meeting of the Society for Neuropediatrics(2019)

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摘要
Introduction: Next-generation sequencing (NGS) is a helpful tool to identify monogenic epilepsy syndromes and thus significantly influences therapeutic approaches. However, the numbers of genes tested in such panels varies greatly. In Germany panels up to 25kb of length are tested frequently – as German public health insurers cover the costs of panels up to this size – but there are also tests of much larger panels carried out in certain cases. At present there is no evidence if and under which circumstances tests of larger panels are superior.
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epilepsy,panel size
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