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: 


BRCA Variant Classification Run 3 - Registration Open

Posted 8/07/2019

GenQA and EMQN are delighted to announce that Run 3 of the ‘BRCA variant classification competence assessment’ is NOW OPEN for registration.

To register please go to:

To download the flyer please click HERE


ACGS Summer Scientific meeting 2019

Posted 26/06/2019

Dr Sandi Deans presented a talk 'Variable Variants - the GenQA story' at the ACGS Summer Scientific meeting (Birmingham, 10th-11th June 2019).

A copy of the slides can be found HERE


Tissue-i (tumour assessment) Run 5 released

Posted 25/06/2019

You are invited to participate in this GenQA EQA pilot for the assessment of tumour and cellularity content of H&E stained formalin fixed paraffin embedded tissue and fresh frozen tissue samples requiring molecular testing.

  • To deliver this EQA, GenQA has developed an online digital pathology assessment module in partnership with Philips. 
  • This pilot EQA is provided as an online module using the Genetics Training and  Assessment Competency Tool (G-TACT).
  • Seven tumour types are included; breast, colorectal/gastrointestinal tract, central nervous system, gynaecological tract, lung, melanoma and urology.
  • Participants can complete the tissue module(s) related to their speciality i.e. you are not required to complete a tissue type module which you do not routinely assess.

For more details please email us at




Go to top