Application of next generation technologies

Next-Generation-Sequencing (NGS) panels for target genes related to peripheral neuropathies have become the preferred method in clinical practice and offer high coverage for selected genes. It was aimed to determine the molecular etiology of hereditary-peripheral-neuropathy in the Turkish population and to reveal the diagnostic yield of targeted Next-Genetion-Sequencing panels. PMP22 duplication/deletion analysis was performed on 64 patients who were referred with a clinical pre-diagnosis of peripheral hereditary neuropathy.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research