EQA Schemes

EQA Scheme Information

Full details on the EQA schemes offered by ERNDIM can be found in the EQA scheme catalogue.

The ERNDIM EQA submission calendar includes full details of the dispatch dates and submission deadlines for the current scheme year.

ERNDIM offers 3 types of EQA schemes: Quantitative, Hybrid and Qualitative. Brief information on these can be found below.

Quantitative Schemes

The main purpose of the quantitative schemes is to evaluate the ability of the participating laboratories to quantitatively analyse the concentrations of the analytes included in each scheme.

  • Acylcarnitines in serum (ACS)
  • Purines and pyrimidines in urine (PPU)
  • Quantitative Amino Acids in serum (QTAS)
  • Quantitative Organic Acids in urine (QTOU)
  • Special Assays in DBS (SADB)
  • Special Assays in serum (SAS)
  • Special Assays in urine (SAU)

Quantitative schemes are planned and managed by members of the ERNDIM Scientific Advisory Board and organised in partnership with MCA Laboratory, a sub divison of SKML, a Quality Assurance provider based in the Netherlands.

The MCA Laboratory dispatches EQA samples to scheme participants and provides a website for on-line submission of results and access to scheme reports by participants.

Existing quantitative scheme participants can log on to the results submission website here.

Hybrid Schemes

The main purposes of the hybrid schemes are to evaluate the ability of the participating laboratories to: 1) quantitatively analyse the concentrations of the analytes included in each scheme and 2) establish or exclude a specific diagnosis of an inherited metabolic disease (IMD).

  • Cystine in white blood cells (CWBC)
  • Lysosomal enzymes in fibroblasts (LEFB)
  • Neurotransmitters in CSF (NCSF)
  • Pterins in urine (PTU)

Hybrid schemes are planned and managed by members of the ERNDIM Scientific Advisory Board and organised in partnership with MCA Laboratory, a sub divison of SKML, a Quality Assurance provider based in the Netherlands.

The MCA Laboratory dispatches EQA samples to scheme participants and provides a website for on-line submission of results and access to scheme reports by participants.

Existing hybrid scheme participants can log on to the results submission website here.

Qualitative Schemes

The main purpose of the Qualitative schemes is to evaluate the ability of the laboratory to establish or exclude a specific diagnosis of an inherited metabolic disease (IMD). Participants are expected to obtain correct analytical results, to recognize the characteristic diagnostic patterns, to make a diagnostic conclusion and to suggest additional test(s) necessary to confirm the diagnosis. These schemes use clinical samples or data from clincal samples (see AAI below) as the EQA materials.

  • Acylcarnitines in dried blood spots (ACDB, organised by 3 centres)
  • Amino Acids Interpretation (AAI) [cases for this scheme are data only with cases from serum, CSF and urine being circulated]
  • Congenital disorders of glycosylation in plasma/serum (CDG)
  • Diagnostic proficiency testing in urine (DPT, organised by 5 centres)
  • Qualitative organic acids in urine (QLOU, organised by 3 centres)
  • Urine mucopolysaccharides (UMPS)

Qualitative schemes are planned and managed by members of the ERNDIM Scientific Advisory Board and, for the ACDB, CDG, DPT, QLOU and UMPS schemes, organised in partnership with CSCQ, a Quality Assurance provider based in Switzerland.

CSCQ dispatches the ACDB, DPT and QLOU EQA samples to the scheme participants. CDG and UMPS samples are dispatched by MCA Laboratory. CSCQ also provides a website for on-line submission of results and access to scheme reports for the ACDB, CDG, DPT, QLOU and UMPS schemes.

Amino Acids Interpretation (AAI): Results submission for this scheme is via an online form managed by the Administration Office.

Existing ACDB, CDG, DPT, QLOU & UMPS scheme participants can log on to the CSCQ results submission website here.

Pilot Schemes

Pilot schemes are planned, managed and organised by individuals with expertise in the relevant area. The schemes are monitored by the ERNDIM Scientific Advisory Board for a minimum period of 2 years (unless the analytes to be included in the new scheme have been part of an existing EQA scheme, with the same scheme design, for at least 2 years). If after this time the Scientific Advisory Board is satisfied that the scheme is successful it will recommend that the Executive Committee adopts the scheme as an official ERNDIM EQA Scheme.

In 2024 & 2025 we will be running 1 pilot scheme:

  1. Lipids in serum

Participation in pilot schemes is limited but if you would like to be contacted if it is possible for us to widen participation in these schemes please contact us.

We would also like to hear about suggestions for new schemes that we might consider in the future.  If you would like to comment please contact us.

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