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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 updates including 'early bird' EQA discounts.

 

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

 

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

Variant Classification and Nomenclature

Overview:

GenQA is the only genomics EQA provider offering this unique group of EQAs which are designed for laboratories/centres describing and/or classifying genomic variants and cover an extensive scope of clinical scenarios and associated conditions/genes.


These highly popular EQAs are supported by an international team of expert advisors using current published Best Practice guidelines, taking into account local practice where stated (if appropriate). In addition to classification EQAs, we also provide EQAs for the interpretation of RNA splicing variants and the use of ISCN.

 

Variant classification, interpretation and reporting are also incorporated into many other GenQA EQAs (see catalogue for further information).

 

Summary Information:

Assess the accuracy of your application of ISCN, and SNV and CNV classification in the germline and somatic setting.

  • EQAs delivered in accordance with the international standard ISO 17043 for proficiency testing providers.
  • Cases based on real patient scenarios and testing results
  • 6 weeks to submit results
  • Submitted results are assessed by an expert scientific panel against published guidelines.
  • Each participant receives an Individual Laboratory Report (ILR) and EQA summary report detailing general findings, common errors and benchmarking against other laboratories worldwide.

Offers:

 

Classification and interpretation of germline CNVs (VCNVG)
Classification of the pathogenicity of prenatal and postnatal CNVs.
Updated: For 2025 the Classification of prenatal CNVs and Classification of postnatal CNVs have been merged into a single EQA.
Classification and interpretation of germline SNVs and indels (VGI)
Classification and interpretation of germline sequence variants. Submit a clinical report.(this EQA was previously named 'pathogenicity of germline sequence variants)
Classification of germline SNVs and indels (VGC)
Classification of germline SNVs. Submit results via a proforma.(this EQA was previously named 'pathogenicity of germline sequence variants)
Classification of haematological neoplasm SNVs, CNVs and SVs (pilot) (VHC)
Classification of the pathogenicity of haematological neoplasm variants.
Classification of somatic solid tumour SNVs, CNVs and SVs (pilot) (VSC)
Classification and interpretation of the pathogenicity of somatic sequence variants and submit results via a proforma.
ISCN (International System for Human Cytogenomic Nomenclature) (pilot) (VISCN)
Using ISCN to describe cytogenomic results.