We use cookies to collect information, and enable our website to work properly. Please tell us whether you accept cookies by clicking the button below. If you decide not to accept cookies, our site may not work as expected and some information may not be available.
Click here for more information on cookies, including how to remove them.
Classification and interpretation of germline sequence variants. Submit either an interpretative clinical report or variant classification only (dependent on the scope of your laboratory).
EQA INFORMATION
EQA Code
VGI
Submission
Clinical Report
Techniques
N/A
Eligibility
All laboratories worldwide.
Language
English only
EQA Accreditation
EQA accredited to ISO 17043:2023
EQA open
06 October 2025
05 October 2026
Testing period
6 weeks
OTHER INFORMATION
The 2025 EQA is suitable for laboratories who provide both the classification and clinical interpretation of sequence variants in a diagnostic report. Cases are the same as those used for the GenQA Classification only EQA.
For 2026 there will be no classification-only EQA and all laboratories should enrol in this EQA. The 2026 EQA is suitable for:
Laboratories who provide both the classification and clinical interpretation of sequence variants in a diagnostic report. These laboratories should submit their routine laboratory report and also complete the variant classification form provided.
Laboratories who provide the classification of sequence variants to clinical staff for interpretation. These laboratories should complete the variant classification form and submit a pdf stating that they do not provide clinical interpretation.
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: Classification and interpretation of several SNVs and indels (<50bp) identified from WGS/large panel sequencing analysis.
NEWSLETTER SIGN UP