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Clinical Genetics - inherited metabolic disorders (pilot)

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Clinical diagnosis and genetic counselling based on family history and test results: online educational case scenario with multiple stages. This EQA was postponed in 2024; please contact GenQA for further information

EQA INFORMATION

EQA Code
CGU
Submission
Clinical Report
Techniques
N/A
Eligibility
Clinical Genetics centres and Inherited Metabolic services worldwide that deal directly with genetic reports.
Language
English, French, German, Italian, Polish, Portuguese, Spanish
EQA Accreditation
Pilot
EQA open

03 November 2025

Testing period
6 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 answers online by the deadline.  The submitted results are independently assessed for the accuracy of requesting appropriate genetic and non-genetic tests, interpretation of test results for clinical diagnosis and the provision of relevant genetic counselling.  

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 their performance status for all EQAs in which they are enrolled.

Please note: EQA details may be subject to change prior to EQA distribution.  

PRODUCTS

Sample type: Case scenario
Testing/analysis: An educational multi-stage case scenario based on genetic counselling of a real clinical case. Answers are submitted at each stage.
Conditions/Gene target(s): Various syndromes involving single gene disorders.
Number of cases: One

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Clinical Genetics - inherited metabolic disorders (pilot)

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