Abstract

Background: Next generation sequencing (NGS) or high throughput sequencing has for the last years been used routinely in genetic diagnostics at Telemark Hospital. Targeted NGS with panels for several genes contributes diagnostically to inherited neurological disorders such as Charcot–/INS;Marie–/INS;Tooth disease, distal Hereditary Motor Neuronopathy, Hereditary Spastic Paraplegia and Neurofibromatosis. In addition, NGS exome sequencing, i.e. sequencing of all exons, may identify pathogenic, disease causing mutations.

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