Overview

Charcot-Marie-Tooth neuropathy type 1A (CMT1A) is a demyelinating peripheral neuropathy characterised by distal muscle weakness and atrophy and sensory loss. 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.

Category

Cost

Private and public patients: $305.15 (bulk billed)

Non-Medicare patients: $510.40

Reporting time

Routine analysis: 2-3 weeks

Urgent: 8-10 days

Contacts

David Francis

Phone (03) 8341 6258 (Lab)

Phone (03) 8341 6282 (direct)

Specimen Requirements

EDTA blood: Adults/Children: 5 ml

Saliva (please contact laboratory for saliva kits)

Genes tested