Hereditary neuropathies are a group of inherited disorders that affect the peripheral nervous system. They are divided into four primary subcategories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy and hereditary sensory and autonomic neuropathy. The most common type is Charcot-Marie-Tooth disease, a type of hereditary motor and sensory neuropathy.
ICM offers neurologists a comprehensive range of genetic tests in this area and different diagnostic approaches to suit each individual case. The following can be performed:
Genetic abnormalities are one of the main causes of developmental delay. Early intervention is key to helping to minimise or overcome developmental delay in children.
Multiple genes are involved in one way or another in development processes. It is therefore necessary adopt a diagnostic approach in each case to identify the aetiology of each problem.
One of the many panels offered is a global NGS panel for developmental delays covering all the genes known to be involved in this process to date.
The coverage is 100% and the average coverage depth greater than 300X, with a minimum of 50X, making this the panel with the highest diagnostic capacity.
ICM provides diagnostic solutions for the variety of different cases that clinicians may be presented with during consultations, helping specialists to choose which study to perform. Contact the advisory team by email at firstname.lastname@example.org.
ICM offers clinicians a wide range of genetic studies that can be viewed in the available catalogue.