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Chromosome instability syndromes

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Molecular and/or cytogenomic testing for chromosome breakage or instability.

EQA INFORMATION

EQA Code
GCI
Submission
Clinical Report
Techniques
Any methodology, Chromosome instability studies, Sister Chromatid Exchange (SCE)
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, Images: stained chromosomes
Testing/analysis: Online analysis of stained metaphase images from patients with chromosome breakage/instability syndromes and a control sample.
Optional DNA sample for molecular testing. 

Conditions/Gene target(s):
  • Ataxia telangiectasia
  • Bloom syndrome 
  • Cornelia de Lange syndrome  
  • Fanconi anaemia 
  • ICF (immunodeficiency, centromeric instability, facial anomalies) syndrome 
  • Mosaic variegated aneuploidy 
  • Nijmegen syndrome
  • Roberts Syndrome
  • Seckel syndrome
  • ATM, ATR, BRD4, BUB1B, CDCA7, CENATAC, CENPJ, CEP152, CEP295, CEP57, CEP63, DNA2, DNMT3B, ESCO2, FANC genes, HDAC8, NIN, NIPBL, NSB1 (NBN), NSMCE2, RAD21, RBBP8, RECQL3 (BLM), SMC1A, SMC3, TRAIP, TRIP13, ZBTB24
We aim to include a variety of tests within each EQA.  For this EQA, please select the required options at enrolment.  In addition, you may opt out of any case if it is outside of your routine laboratory scope, by following the instructions in the EQA Distribution letter.   
Number of cases: Three

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Chromosome instability syndromes

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