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Classification and interpretation of germline CNVs

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Classification of the pathogenicity of prenatal and postnatal CNVs.

EQA INFORMATION

EQA Code
VCNVG
Submission
Proforma
Techniques
N/A
Eligibility
All laboratories worldwide
Language
English, French, German, Italian, Polish, Portuguese, Spanish
EQA Accreditation
Currently not accredited
EQA open

06 October 2025

Testing period
5 weeks

OTHER INFORMATION

 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: Determine the pathogenicity of several postnatal germline copy number variants. Submit your classification and supporting evidence in a proforma.
Conditions/Gene target(s): Two postnatal examples and two prenatal examples.
 
Any disorder/gene.
Number of cases: Four

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Classification and interpretation of germline CNVs

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