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Enrolled participants will receive details by email when an EQA is open for assessment and/or samples have been dispatched.
Participants are expected to access the instructions and information for the cases/samples online and to analyse them according to their laboratory/centre protocols.
Participants must submit their anonymised results by the deadline using their standard laboratory report or a proforma provided by GenQA. The submitted results are independently assessed for the accuracy of the analytical/genotyping results, clinical interpretation of the results (if appropriate) and clerical accuracy (including report layout and content).
What can I expect as a participant?
Every participant will receive:
An Individual Laboratory/Centre Report (ILR/ICR) with educational advice for each distribution of this EQA.
The Summary report for each distribution of this EQA which contains information regarding general findings, a summary of methodologies used, common errors, number of participants and benchmarking.
Access to a live Performance Certificate summarising your performance status for all EQAs in which you are enrolled.
Please note: EQA details may be subject to change prior to EQA distribution.
PRODUCTS
Sample type: DNA in TE buffer
Testing/analysis: Copy number variant detection to genome wide resolution using:
Array
NGS
Conditions/Gene target(s): Prenatal constitutional CNV detection - >50kb CNV loss and/or gain in prenatal samples (CVS and amniotic fluid).
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