Product Code: 01-CMT-26
From £449.00 Early Bird
Early Bird Deadline: 31/10/2025
Deadline to order: 30/11/2025
PMP22 deletion/duplication testing for CMT/HNPP, this EQA has options for PMP22 targeted testing and panel testing for CMT/HNPP associated genes (Germline DNA).
Deletion/duplication variants involving PMP22, and one optional sample provided for testing other CMT/HNPP-associated genes such as MPZ,GJB1, GARS1, and SH3CT2.
CNV, MLPA, NGS, Panel testing, Sanger sequencing, Whole exome sequencing, Whole genome sequencing
English, French, German, Italian, Spanish
DNA (in TE Buffer)
Yes
January 2026
January - March 2026
August 2026
You can complete purchase on our secure partner site.
The scheme is designed to assess the entire diagnostic pipeline of a laboratory, including sample receipt and processing, analytical processing (genotyping), and reporting (biological and clinical interpretation of the test result) in the context of a clinical referral, as well as reporting clarity, content and clerical accuracy.
Three mock clinical cases will be provided, two with samples and one virtual case.
There are options for PMP22 targeted testing only, and gene panel-based testing of other CMT-associated genes.
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.
Participants are expected to test samples according to their routine strategy, to return a clinical report and to complete the data collection form.
This EQA is NOT suitable for laboratories testing recurrent mutations only.
No restrictions on number of participants. Open to laboratories from ALL countries (note: some restrictions may apply due to sanctions, delivery network exceptions, restrictions on importation etc).
added wishlist!
View Wishlist
View Wishlist
Express your interest in ''.
