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Reproductive carrier screening (pilot)

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Molecular testing for preconception carrier screening

EQA INFORMATION

EQA Code
RPCS
Submission
Clinical Report
Techniques
Any methodology
Eligibility
All laboratories worldwide.
Language
English only
EQA Accreditation
Pilot
EQA open

29 September 2025

Testing period
8 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: DNA in TE buffer
Testing/analysis: Testing of reproductive couples (can be reported together or individually) .  
Conditions/Gene target(s): Testing of genes/variants associated with carrier screening. 
Number of cases: Two couples

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Reproductive carrier screening (pilot)

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