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The EQA is suitable for laboratories who provide both the classification and clinical interpretation of sequence variants in a diagnostic report. Please complete the cases even if your laboratory does not routinely test for the disorder listed.
What are participants required to do?
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: Case scenario
Testing/analysis:Interpret the results of RNA analysis for several potential splicing variants (agarose gel and Sanger sequencing). Variant re-classification is not required. For 2026: An optional exploratory RNAseq case will also be included.
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