Sensorimotor neuropathies represent a group of disorders that affect peripheral nerves, affecting the ability to transmit signals between the central nervous system and the rest of the body. Neuropathies can be classified according to several criteria, including the mechanism of damage and location. Axonal neuropathies mainly involve the axon, the part of the neuron responsible for conducting nerve impulses. Axon damage leads to a reduction in nerve conduction and can result in muscle weakness and loss of sensation. Demyelinating neuropathies involve myelin, the protective sheath around axons. Myelin is essential for efficient nerve conduction. Damage to myelin can cause slowdowns in nerve impulse conduction, leading to symptoms such as weakness, tingling and loss of sensation. Intermediate neuropathies, on the other hand, can have both axonal and demyelinating features. Nerve damage in these neuropathies is more complex and can vary from one patient to another. It is often not easy to classify neuropathies as purely axonal or demyelinating, and they may present signs and symptoms of both forms.

66 genes

1/2.500

Multigenic panel aimed at the molecular diagnosis of sensorimotor neuropathies, axonal CMT, demyelinating and intermediate neuropathies.

Method: NGS sequencing, determination of SNVs (Single Nucleotide Variants), small insertions and deletions and CNVs (Copy Number Variants).

Limits: The test is unable to determine the presence of underrepresented somatic events, balanced chromosomal rearrangements, nucleotide expansion events of repeat regions, CNVs <3 contiguous exons. <3 esoni contigui.

Some genes may have low coverage areas, where necessary or upon specific request, within the limits of methodological limitations, sequencing can be completed with alternative methods (Sanger).

Some genes may be duplicated in the genome (pseudogenes), which may invalidate the analysis. 

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