2019 EQA schemes now available

Posted 10/10/2018

Details of the EQA schemes for 2019 are now available at https://www.genqa.org/eqa.  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 https://www.nature.com/articles/s41431-018-0244-x to view the article and https://www.nature.com/articles/s41431-018-0244-x#Sec20 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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