Genetic diagnosis of inherited peripheral neuropathies using gene panel testing: The utility of follow up familial testing in 4 years of experience


Inherited peripheral neuropathy (IPN) encompasses a clinically and genetically heterogeneous group of disorders. The Bristol Genetics Laboratory has provided a specialist UK Genetic Testing Network (UKGTN) service for 4 years, testing 56 genes associated with IPN using Next Generation Sequencing (NGS) technology. In this time we have tested approximately 1,200 patients with IPN. A genetic diagnosis provides a definite clinical classification, guides the prognosis and provides accurate genetic risk assessment for the patient, as well as offering predictive information for their family.


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