NX GEN SEQ, CHARCOT-MARIE-TOOTH DISEASE & SENSORY NEUROPATHIES
Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy. It refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy, also known as hereditary motor and sensory neuropathy (HMSN). Individuals with CMT manifest symmetric, slowly progressive distal motor neuropathy of the arms and legs usually beginning in the first to third decade and resulting in weakness and atrophy of the muscles in the feet and/or hands. The affected individual typically has distal muscle weakness and atrophy, weak ankle dorsiflexion, depressed tendon reflexes, and high-arched feet. Sensorineural hearing loss can occur. Dejerine-Sottas syndrome (DSS) is a demyelinating neuropathy of infancy and childhood & is a form of CMT. CMT can be caused by mutations in many different genes which code for proteins that are involved in the function of peripheral nerves in the feet, legs and hands. These mutations affect the function of the proteins in ways that are not fully understood; however they likely impair axons which transmit nerve impulses or affect the specialized cells that produce myelin.
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Parameters
- Nx GEN SEQ CHARCOT MARIE TOOTH DISEASE SENSORY