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- W2509678082 abstract "Genetic testing in inherited neuropathies: What and when to test Professor Mary M Reilly, MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London UK There are now more than 80 identified causative genes for the inherited neuropathies. This makes it challenging for clinicians to decide which genes to test and in what order for an individual patient. Despite the advent of next generation sequencing, careful phenotyping is still the first step in acheiving an accurate genetic diagnosis. Most diagnostic laboratories are using next generation sequencing techniques (NGS) and have developed disease-specific, or mulit-gene, testing panels which employ NGS to regions of the exome that contain known inherited neuropathy genes. These disease-specific panels are currently the best method for simultaneously screening a large number of CMT genes and, until the coverage of WES (whole exome sequencing) and WGS (whole genome sequencing) improves, they are likely to remain a comprehensive tool in genetic diagnosis of patients with CMT. In the case of a patient with sporadic or autosomal dominant CMT1 and with the typical homogenous motor conduction slowing, we still recommend testing for the 17p duplication with conventional methods as a first step. Otherwise we use a targeted CMT panel approach depending on the phenotype. We use WES for those patients who still do not have a genetic diagnosis but this currently is still done in the research side of our service. Careful in depth phenotyping remains crucial not only in choosing what tests to do but in helping to determine if variants identified by genetic testing are pathogenic which is currently the major diagnostic challenge." @default.
- W2509678082 created "2016-09-16" @default.
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- W2509678082 date "2015-10-01" @default.
- W2509678082 modified "2023-09-25" @default.
- W2509678082 title "Genetic testing in inherited neuropathies: what and when to test" @default.
- W2509678082 doi "https://doi.org/10.1016/j.jns.2015.09.188" @default.
- W2509678082 hasPublicationYear "2015" @default.
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