Inherited neuropathies are a large group of genetically and phenotypically heterogeneous disorders affecting the peripheral nervous system. Hereditary neuropathies are categorized by involvement of motor, sensory and/or utonomic nerve fibers. They can be divided into 3 main categories: hereditary motor and sensory neuropathies (HMSN), also known as Charcot-Marie-Tooth (CMT) disease, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy (HSAN). For several of these conditions, the genetic defect is known, and tests are available for diagnosis and counseling.
Through the Northwell Health Genomics Alliance, genetic testing is available for over 100 different hereditary neuropathy orders. The most common hereditary neuropathy tests are listed below.
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