duplication or deletion of the PMP22 gene

Detection of the duplication or deletion of the PMP22 gene
is achieved using fluorescent dosage PCR analysis to determine
the number of gene copies present. Following initial PCR
amplification with fluorescently-labelled primers, the products
are analysed by automated laser-induced fluorescence. Point
mutations in all five CMT genes are detected by a variety of
methods depending on local practices, including SSCP, DGGE
and DNA sequencing. Requests for prenatal testing in the UK
are rare.