GenQA offer >120 genomics EQA covering thirteen different disciplines, encompassing the sample and patient journey.
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Introducing GENie – the specialist genomic education and assessment tool for individual competency.
Molecular Newborn Screening
Overview:
GenQA has offered molecular newborn screening EQAs since 2008, gaining substantial experience in providing validated EQA blood spot samples for molecular testing. The molecular newborn screening EQAs cover either primary testing e.g. SCID (TREC) and SMA or follow-up/second tier testing (subsequent to biochemical analysis) e.g. CF and MCADD.
These EQAs are designed for laboratories providing molecular testing using blood spotted onto newborn blood spot cards, using any standard laboratory protocol. The samples provided are kindly donated by patients and their families to GenQA for this purpose. This enables GenQA to provide clinical cases and samples which closely mimic those received during the newborn screening process.
For laboratories performing in depth analysis of DNA samples and interpretation for these disorders, a full suite of assessments is offered by our Genomic and Inherited disorders EQAs.
Summary information:
Assess the quality of your molecular testing using blood spotted onto neonatal screening cards.
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