List of GenQA publications

Posted 5/12/2018

For our latest publications go to

BRCA Variant Classification EQA Run 2 Webinar

Posted 23/11/2018

Click HERE to see a webinar presented by GenQA and EMQN on the results of their 2018 BRCA genes variant classification EQA scheme (round 2).
This scheme was sponsored by AstraZeneca.
© Copyright GenQA and EMQN.  This video cannot be copied, distributed or published in any form without the written permission of GenQA or EMQN.

GenQA ISO17043 accreditation maintained

Posted 31/10/2018

We are pleased to announce that GenQA underwent its first joint ISO 17043 accreditation surveillance visit last week which went very well. The accreditation body, UKAS has recommended that our accreditation status be continued and GenQA will continue to provide an accredited service. 

GenQA's most recent accreditation scope may be viewed here: 

2019 EQA schemes now available

Posted 10/10/2018

Details of the EQA schemes for 2019 are now available at  New schemes include:

    • Hereditary breast and ovarian cancer (panel test)
    • Imprinting and UPD (for Angelman syndrome and Beckwith Wiedemann syndrome)
    • Neurofibromatosis (types 1 and 2) and schwannomatosis
    • Osteogenesis Imperfecta
    • Phaeochromocytoma and Paraganglioma disorders (endocrine tumour predispostion and Von Hippel Lindau disease)
    • Retinal disorders
    • Variant validation 
    • X-inactivation

European guidelines for constitutional cytogenomic analysis

Posted 2/10/2018

The European guidelines for constitutional cytogenomic analysis has been published including GenQA authors Dr Ros Hastings and Dr Katrina Rack. 

Please visit to view the article and to see a video of Dr Hastings talking about the importance of the guidelines. 

International Workshop on Cancer and Genetic & Cytogenetic Diagnostics

Posted 18/09/2018

March 20 to March 22, 2019

Radboud University Medical Center, Nijmegen, The Netherlands

GenQA's Dr Katrina Rack is an invited speaker, please see here for more information: flyer_program2019.pdf 

Invitation to apply

Posted 18/09/2018

Members of the genomics profession are invited to apply to join the EMQN and GenQA Specialist Advisory Group for Next Generation Sequencing (NGS). In particular individuals with expertise in bioinformatics and statistical analysis are encouraged to apply.

Further information can be found here: Advert for NGS SAG members 2018 v2.pdf

Invitation to participate - BRCA variant run 2

Posted 4/04/2018

Building upon the success of our first BRCA variant classification competence assessment in 2017 (run 1), EMQN and GenQA/UK NEQAS for Molecular Genetics are pleased to announce that registration is NOW OPEN to participate in the 2018 scheme (run 2).

How to participate

Registration is now open and easy to complete.

  • All information including key dates and full instructions on how to complete the EQA will be sent to you.
  • There is no fee to participate as Astra Zeneca will cover your participation costs. Please note that Astra Zeneca will not be provided with your identified EQA results.
  • The closing date is 25th May 2018.

More information may be found here: BRCA variants run 2 - invitation to participate 2018 v3.pdf


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