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Genetic testing
Hereditary Sensory and Motor Neuropathies
Hereditary Sensory and Motor Neuropathies
Test code: HNEUR-SNGSMost common hereditary polyneuropathies. NGS analysis of the entire coding sequence of the GJB1, HINT1, MPZ, PMP22, GARS1, GDAP1, IGHMBP2 genes, responsible for the most common types of Charcot-Marie-Tooth disease (after exclusion of the PMP22 duplication - > test code CMT-MLPA).
We perform genetic testing from:


Hereditary Sensory and Motor Neuropathies
Test code: CMT1X-1CMT1X. Analysis of the coding sequence of the GJB1 gene
We perform genetic testing from:


Hereditary Sensory and Motor Neuropathies
Test code: CMT-MLPACharcot-Marie-Tooth Neuropathy Type 1A (CMT1A) and HNPP. Identification of large duplications and deletions in the PMP22 gene using the MLPA method.
We perform genetic testing from:

Hereditary Sensory and Motor Neuropathies
Test code: HNEUR-NGSNGS analysis of the coding sequence of over 80 genes (proprietary custom panel, including Charcot-Marie-Tooth disease, CMT), based on Whole Exome Sequencing (WES).
We perform genetic testing from:

