New!
Product Code: 01-NFB-27
From £380.00
Deadline to order: 30/11/2026
Testing of the NF1 gene for patients with neurofibromatosis and familial cases.
Analysis of the NF1 gene.
CNV, MLPA, NGS, Panel testing, Sanger sequencing
English, French, German, Italian, Spanish
DNA (in TE Buffer)
No
Jan-27
January - March 2027 (for exact dates, please see scheme instructions)
August 2027
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 with corresponding DNA samples for analysis, 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.
Participants are expected to test samples according to their routine strategy, to return a clinical report and to complete the data collection form.
This is a pilot EQA, restricted to 30 participants. Open to laboratories from ALL countries (note: some restrictions may apply due to sanctions, delivery network exceptions, restrictions on importation etc).
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