Charcot-Marie-Tooth disease / Hereditary Neuropathy with liability for Pressure Palsies (CMT/HNPP) (PMP22 and optional gene panel testing for other CMT-associated genes).

Four mock clinical cases with matching samples will be provided- two for PMP22 testing, and one optional case for NGS-based analysis and reporting of other CMT-associated genes. Laboratories that do not perform NGS-based analysis for other CMT-associated genes are not required to test it. One case is ‘virtual’, with a genotype provided in the case scenario, for interpretation and reporting.

Approximately 2µg DNA per sample is provided. Complete information will be available in scheme instructions.

Participants will receive an individual report including educational advice and a scheme report which includes additional information from the cohort of participants including geographical spread, methodologies employed, common errors, learning points and scheme statistics allowing participants to benchmark their results.

Each laboratory will also receive a single certificate listing all EQAs participated in with performance result for each year.

No restrictions on number of participants. Open to laboratories from ALL countries (note: some restrictions may apply*)

*Sanctions, delivery network exceptions, restrictions on importation etc.