Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a demyelinating peripheral neuropathy characterized by distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop. Affected individuals usually become symptomatic between age five and 25 years.
Genetics - Molecular Pathology
This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
Deliver same day or overnight courier, ambient
Ambient (8 - 24 degrees Celsius)
Please do not centrifuge or freeze blood samples.
Exons 2 to 5 of the PMP22 gene are amplified using PCR and analysed by automated fluorescent bi-directional DNA sequencing.
Uncertainty of Measurement:
Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%. This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.
Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
3.For deletion/duplication analysis of this gene refer to MLPA Testing