Please note that this website is no longer being maintained. For all current information and registration please refer to GenQA.


Interpretation only

UK NEQAS for Molecular Genetics will be offering the following interpretation only EQAs during 2017 which are open to laboratories in the UK, Ireland and Netherlands. Clinical case scenarios and genotyping results will be made available to participants and they will be required to submit a full interpretative report for each case. There will be three cases for each disease EQA. These are web-based schemes and no samples will be distributed.

  • Duchenne and Becker muscular dystrophy
  • Spinal muscular atrophy

Pathogenicity of sequence variants 2017

Following on from the success of the previous pilot EQA runs, UK NEQAS for Molecular Genetics is pleased to provide the pathogenicity of sequence variants EQA for 2017 as a full EQA scheme. This means that performance critiera will be applied. This EQA will be interpretation only and is open to all laboratories.


Scheme dates for 2017

  • Online scheme registration - open until 31st March, 2017
  • Cases available - 12th June, 2017 or 24th July, 2017
  • Report submission deadline -1st September, 2017
  • Annual report published - November, 2017
  • Appeals period - November/December, 2017
  • Final scores and final report published - December, 2017


Scheme fees for 2017 - click here