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


Genotyping and interpretation

UK NEQAS for Molecular Genetics will be offering the following full interpretative disease EQA schemes during 2017. DNA samples will be distributed for three clinical case scenarios for each disease scheme. Genotyping, Interpretation and Clerical Accuracy will be assessed. If you have not previously participated in a UK NEQAS for Molecular Genetics EQA scheme then please contact the Scheme ( for further information.

Molecular Core Diseases for 2017 (open to laboratories in the UK, Ireland and Netherlands)

  • Cystic fibrosis
  • C9orf72 Frontotemporal Dementia and or Amyotrophic Lateral Sclerosis pilot
  • Fabry disease
  • Familial breast and ovarian cancer (BRCA1 and BRCA2)
  • Familial adenomatous polyposis
  • Familial hypercholesterolaemia
  • Fragile X syndrome
  • Friedreich ataxia
  • Huntington disease
  • Hypertrophic cardiomyopathies gene panel
  • Long QT syndrome
  • Lynch syndrome
  • Maternal cell contamination with sexing
  • Medium chain acyl CoA dehydrogenase deficiency molecular scheme
  • Mitochondrial diseases
  • Multiple endocrine neoplasia type 2
  • Myotonic dystrophy
  • POLG testing
  • Prader-Willi and Angelman syndrome
  • Spinocerebellar ataxias
  • Von Hippel-Lindau syndrome

Scheme dates for 2017 - molecular core diseases:

  • Online scheme registration - open until 31st March, 2017
  • Sample distributions (disease dependent) - 12th June, 2017 and 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


NEW for 2017 (Open to all laboratories)

To reflect the widespread introduction of panel testing and clinically-focussed genomic methods the following pilots will be provided during 2017:

1. Cancer gene panel testing. This will include testing for germline mutations in the most commonly tested genes within broad-ranging cancer panels e.g. PTEN, PALB2, MUTYH etc. This pilot EQA will not overlap with the clinical cases assessed in the familial breast and ovarian cancer or Lynch syndrome EQAs. Laboratories performing exome and whole genome sequencing on appropriate clinical cases are encouraged to participate. Further information can be downloaded - Cancer Panel Pilot Scheme 2017 Flyer.pdf

2. Aortopathies gene panel testing. Full details can be downloaded - Aortopathies Scheme 2017 Flyer.pdf


Molecular Rapid Aneuploidy scheme 2017 (Open to all laboratories)

This EQA scheme is offered in collaboration with Cytogenetic External Quality Assessment Service (CEQAS). Submissions will be assessed by both Molecular Genetic and Cytogenetic assessors. Participant appeals and poor performance are ratified by both EQA schemes.

This EQA is a collaboration between CEQAS and UK NEQAS for Molecular Genetics. Therefore in order to maintain performance monitoring for laboratories potentially registering with a different provider between EQA distributions, the identity of the poor performance and persistent poor performance laboratories will be shared between the Scheme Directors.

Scheme dates for 2017 - Molecular Rapid Aneuploidy:

  • Online scheme registration - until 31st March, 2017
  • Sample distribution - 4th September, 2017
  • Report submission deadline - 29th September, 2017


Scheme fees for 2017 - click Scheme fees 2017 v1.pdf