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Genomic EQA Directory

GenQA offer >120 genomics EQA covering thirteen different disciplines, encompassing the sample and patient journey. 

Free GenQA membership is required to purchase EQAs and enrol in individual competency assessments.

 

2025 EQA price list (1st April 2025 - 31st March 2026)                         2024 EQA price list (1st April 2024 - 31st March 2025)

 

GenQA LIVE calendar (includes EQA dates and other GenQA events)

Technical (NGS and OGM)

Overview:

In response to participant demand, GenQA offers several EQAs to assess the standard of testing by specific technologies, i.e. NGS and OGM.

 

The NGS EQAs are available for both germline (SNVs/small indels and CNVs) and somatic testing (small variants only). They are designed to allow participation using any NGS platform or technology and assess the quality of routine sequencing tests from a single gene to a panel, exome or whole genome. Results are submitted as routine file formats (VCF, BED, FASTQ, BAM) and participants can submit up to three different data sets per EQA.
 

The GenQA Optical Genome mapping pilot EQA will provide assessment of the testing of haematological malignancies and will be developed further to include other clinical referrals.. This EQAs is designed to test the ability of laboratories to describe and/or classify copy number and structural variants.

These EQAs are supported by our suite of sample/online EQAs covering analysis and interpretation of variants for specific disorders and conditions.  

 

Summary Information:

EQAs delivered in accordance with the international standard ISO 17043 for proficiency testing providers.

 

Next Generation Sequencing: Assess the quality of your NGS sequencing using any platform or technology, in germline and somatic samples.

  • Use any platform and technology
  • Test single gene, gene panels, exome sequencing and/or whole genome sequencing
  • Submit up to 3 different data files per EQA (excluding germline CNV EQA)
  • 8 weeks to submit results
  • Each participating laboratory receives a review of their submitted data and EQA summary report detailing general findings, a summary of methodologies used and benchmarking against other laboratories worldwide.

 

Optical Genome Mapping: Assess the accuracy of your OGM bioinformatic algorithms and pipelines for structural and copy number aberrations in both haematological neoplasms and rare diseases.

  • Data files provided
  • 6 weeks to submit results
  • Each participating laboratory receives an Individual Laboratory Report (ILR) and EQA summary report detailing general findings, common errors, a summary of methodologies used and benchmarking against other laboratories worldwide

Offers:

Enrol in an NGS EQA and get a Classification of SNVs/CNVs EQA for free!

 

Next Generation Sequencing (NGS) for germline CNVs (pilot) (NGSGC)
Next Generation Sequencing (NGS) technical EQA for germline testing of copy number variants (CNVs).
Next Generation Sequencing (NGS) for germline SNVs and indels (NGSG)
Next Generation Sequencing (NGS) technical EQA for germline testing of SNVs and indels.
Next Generation Sequencing (NGS) for somatic SNVs and indels - tumour testing only (NGST)
Next Generation Sequencing (NGS) technical EQA for somatic (tumour only).
Next Generation Sequencing (NGS) for somatic SNVs and indels - tumour with germline subtraction analysis (NGSM)
Next Generation Sequencing (NGS) technical EQA for somatic testing with germline subtraction analysis.
Optical Genome Mapping (OGM) - haematological neoplasms (pilot) (OGMH)
Assess the accuracy of your OGM bioinformatic algorithms and pipelines for structural and copy number aberrations in haematological neoplasms.
Updated: For 2025 this EQA has been split into two EQAs for rare disease (2025OGMR) and haematological neoplasms (2025OGMH).
Optical Genome Mapping (OGM) - rare disease (pilot) (OGMR)
Assess the accuracy of your OGM bioinformatic algorithms and pipelines for structural and copy number aberrations in rare diseases.
Updated: For 2025 this EQA has been split into two EQAs for rare disease (2025OGMR) and haematological neoplasms (2025OGMH).