Charcot-Marie-Tooth disease: PMP22 gene (17 dup. + sequencing)
Speciality(ies) / Other Speciality(ies)
Sequencing + MLPA
Test / Mutation List
8 to 10 weeks
Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
For other samples types, please contact the laboratory.