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Imprinting disorders

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Molecular and cytogenomic testing for disorders associated with imprinting.

EQA INFORMATION

EQA Code
GIM
Submission
Clinical Report
Techniques
Any methodology
Eligibility
All laboratories worldwide.
Language
English, French, German, Italian, Polish, Portuguese, Spanish
EQA Accreditation
EQA accredited to ISO 17043:2023
EQA open

07 April 2025

Testing period
8 weeks

OTHER INFORMATION

Suitable for both molecular and/or cytogenomic testing. 

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: Index case, single gene, familial/predictive testing
Conditions/Gene target(s):
  • Angelman syndrome (AS)
  • Beckwith Wiedemann syndrome (BWS)
  • Silver-Russell syndrome (SRS) / Russell-Silver syndrome (RSS)
  • Temple syndrome
  • Wilms tumour 
  • UPD7, UPD11, UPD14, UPD15
  • UBE3A, CDKN1C, H19, ICR1, KCNQ1OT1
Different disorders are included in each case.  If your laboratory does not routinely test for all of these diseases, then please contact GenQA.

Number of cases: Three/Four

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Imprinting disorders

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