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Genetic Counselling - rare and inherited disorders (pilot)

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Genetic counselling based on family history and test results: online educational case scenario with multiple stages.

EQA INFORMATION

EQA Code
CGGR
Submission
Clinical Report
Techniques
N/A
Eligibility
Open to all Clinical Genetics centres
Language
English only
EQA Accreditation
Pilot
EQA open

19 May 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 ability of a Clinical Genetic Counselling department to diagnose the condition, select or suggest appropriate tests, offer counselling to the family and suggest appropriate patient management.

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 summarizing 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): Pre and post test counselling for prenatal diagnosis, and rare and inherited genetic disorders/diseases. Based on family history and test results.
Number of cases: One

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Genetic Counselling - rare and inherited disorders (pilot)

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