CHARCOT-MARIE-TOOTH: CLINICAL EXOME PANEL (Sec. & CNVs) – 151 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Charcot-Marie-Tooth (CMT) panel analyzes 151 genes associated with inherited peripheral neuropathies affecting motor and sensory nerves, resulting in distal muscle weakness, sensory loss, areflexia, and skeletal deformities. This group of diseases exhibits significant genetic and clinical heterogeneity, including demyelinating (CMT1), axonal (CMT2), intermediate, and X-linked (CMTX) forms. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel identifies mutations in genes involved in myelin structure, axonal transport, mitochondrial metabolism, and synaptic function, facilitating accurate molecular diagnosis and family genetic counseling. Some of the most relevant genes included are PMP22, MPZ, GJB1, MFN2, GDAP1, SH3TC2, HSPB1, LMNA, DNM2, and SORD, among others. You can consult the complete list of genes by contacting Genotica.
Other tests
Preventive health test - AboutMe EXOME
545,00€
NEUROFIBROMATOSIS: GENES SMARCB1 Y LZTR1 (NGS-Sec) – ATG Medical
600,00€
Custom sequencing panels (1 to 15 genes)
660,00€