Test & specimen information
Charcot-Marie-Tooth type 1A
Overview
Charcot-Marie-Tooth neuropathy type 1A (CMT1A) is a demyelinating peripheral neuropathy characterised by distal muscle weakness and atrophy and sensory loss caused by duplication of the PMP22 gene. 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.
Test type
Genome-wide chromosome microarray (molecular karyotype)
Turnaround time
4-6 weeks.
Cost
Bulk billed if eligible.
Non Medicare: $394.55