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Optical Genome Mapping (OGM) - rare disease (pilot)

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Assess the accuracy of your OGM bioinformatic algorithms and pipelines for structural and copy number aberrations in rare diseases.

EQA INFORMATION

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

 

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 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: Data files
Testing/analysis: Structural and copy number number aberrations.
Conditions/Gene target(s):
  • Rare diseases
Number of cases: Two

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Optical Genome Mapping (OGM) - rare disease (pilot)

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