Charcot-Marie-Tooth Syndrome
Analysis ID 72
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Charcot-Marie-Tooth Syndrome
OMIM 601098
Clinical information Group of diseases characterized by hereditary neuropathy. The disorder appears in childhood or puberty and has usually progressive symptoms. Symptoms include motor deficit, weakness, and muscle atrophy of the lower legs, feet deformation (pes cavus), and others.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes CMT1A region, including PMP22 gene
Analysis description Quantification of duplication or deletions in the CMT1A region, using MLPA method.
Analysis indication Symptoms of Charcot-Marie-Tooth Syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics