Rare diseases External Quality Assessment Ɩ Clinical pathology

Last updated on 10-3-2025 by Gregor Pairoux

Scope

Number of annual rounds: 2 to 4, depending on the external quality assessment programs

Number of samples per round: 2 clinical samples (+ possibly additional control samples)

Parameters: 

Clinical chemistry

  • International program “pyridoxine-dependent epilepsy in urine and plasma”: 

    • 6-oxopiperidine-2-carboxylic acid (6-oxoPIP)
    • 2S,6S-/2S,6R-oxopropylpiperidine-2-carboxylic acid (2-OPP)
    • Alpha-Aminoadipic Acid
    • Pipecolic acid
    • Delta-2-piperideine-carboxylate
    • Delta-1-Piperideine-6-carboxylate (P6C)
    • α-aminoadipic semialdehyde (a-AASA)
  • International program “assessment of plasmalogen levels in erythrocytes” 
  • International program “biomarkers in cerebrospinal fluid”: 
    • L-5-methyltetrahydrofolate (5-MTHF)
    • 3-Methoxy-4-hydroxyphenylglycol (MHPG)
    • Neopterin
    • Biopterin
  • International program “Dihydropteridine Reductase (DHPR) activity in Dried Blood Spots”
  • International program “pyruvate kinase activity”
  • Belgian national program “galactosemia”: 
    • Galactose-1-phosphate in red blood cells
    • Activity of the galactose-1-phosphate uridyltransferase

Hematology

  • International program “red blood cells membrane disorders” : 
    • Eosin-5’-maleimide (EMA) binding test 
    • Osmotic gradient ektacytometry
    • Separation of red blood cells membrane proteins by SDS-PAGE

Immunology

  • International program “Complement Factor D”

EQA Calendar

2025         2024         2023         2022         2021​ 
(the External Quality Assessment calendar is available in Dutch and French)

Participation

The registration to the External Quality Assessments and the reporting of the results are performed online using Sciensano’s “Toolkit” platform (see link and email address below). The participants annually receive a certificate of participation.

Toolkit registration to the External Quality Assessments
Manual for the  encoding of the results in the Toolkit

Toolkit

Reports

After each round, the laboratories receive a report. Once a year, a global report is written after the discussion of the annual results and review of the External Quality Assessment procedure with the participants during a debriefing meeting.

Contact

Rarediseases.EQA@sciensano.be

Scientific managers

Nathalie Vandevelde
​+32 2 642 55 89
nathalie.vandevelde@sciensano.be

Céline Desmet
​+32 2 642 54 50
celine.desmet@sciensano.be

Other contact

Wim Coucke
​+32 2 642 55 23
wim.coucke@sciensano.be

Secretary

​+32 2 642 55 22                                       
QL_secretariat@sciensano.be
Rue ​Juliette Wytsman 14 • 1050 Brussels

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