Genomic EQA Directory

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.

• EQAs delivered in accordance with the international standard ISO 17043 for proficiency testing providers.
• Cases based on real clinical scenarios, using validated blood samples sourced from patients and their families.
• Any standard laboratory analysis methods.
• Up to four distributions per annum.
• 4 weeks to test samples and submit results.
• Submitted results are assessed by an expert scientific panel.
• Each participant receives an Individual Laboratory Report (ILR) and EQA summary report detailing benchmarking against other worldwide laboratories.