CNV Data Quality Assessment

Posted 30/09/2019

GenQA are delighted to announce a partnership with EMQN and Euformatics to develop a pilot EQA for CNV data quality assessment. 

Released 30th Sept 2019.


GenQA Job Advert

Posted 26/09/2019

Would you like to work with the GenQA team?  Do you have experience in Cytogenomics?  Then please apply for the post below!  For full details see HERE 


BMA Medical Book Award

Posted 9/09/2019

Thank you to The BMA Medical Book Awards for Highly Commending 'Noninvasive Prenatal Testing (NIPT) - Applied Genomics in Prenatal Screening and Diagnosis'. Chapter 11 was written by GenQA's Dr Sandi Deans and Dr Ros Hastings!  For details of other GenQA publications please see our website:

For further details of the BMA Medical Book Awards and the 2019 winner go to:

Cystic fibrosis blood samples

Posted 6/09/2019

Can you help GenQA?  Do you have a cystic fibrosis (CF) clinic/clinician who would be able to help us find CF patients/families in the UK who might be interested in donating a blood sample?

Exploratory pilot EQA for germline large variant detection (CNV & SV)

Posted 13/08/2019

For Participants of the 2018 NGS Germline EQA only:

Following participant feedback, the remit of our NGS EQAs is being expanded to include copy number variant (CNV) and structural variant (SV) detection.  In recognition of the increasing workload of laboratories, this exploratory pilot is designed to use NGS data obtained from the 2018 NGS Germline pilot EQA and laboratories are invited to re-analyse for the detection of CNVs and SVs.

  • Includes assessment of variants of greater than 50 base-pairs in size.
  • Technical EQA only - there will be no assessment of clinical interpretation.
  • The cost of participation is £100.

Participants of the 2018 NGS Germline pilot EQA are invited to complete a short expression of interest survey by Friday 13th September 2019.  
For further information, please e-mail GenQA at


ISCN presentation (ECA conference 2019)

Posted 18/07/2019

Dr Ros Hastings presented a talk at the ECA Permanent Working Group for Quality Issues and Training in Cytogenetics regarding the proposed ISCN changes to be incorporated into ISCN 2020.  The presentation can be accessed below:


UK NEQAS Pan-disciplinary meeting 5th November 2019

Posted 17/07/2019

To mark 50 years as World Leaders in EQA, UK NEQAS are hosting a pan-disciplinary scientific meeting:

"The Patient Behind The Sample"

at The Helix, DCU Campus, Dublin on Tuesday 5 November 2019. For full details and to reserve a place see HERE 


Cytogenomics Participants meeting presentation now available

Posted 12/07/2019

The presentation from the Cytogenomics Participants meeting at ECA2019 is now available here: 



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