Rare diseases ring tests Ɩ Clinical pathology

Last updated on 27-6-2024 by Pierre Daubresse

Scope

Number of annual rounds: 2 to 4, depending on the ring test 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”
  • Belgian national program “galactosemia”: 
    • Galactose-1-phosphate in red blood cells
    • Activity of the galactose-1-phosphate uridyltransferase
  • Belgian national program “pyruvate kinase activity”

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
  • Belgian national program “Eosin-5′-maleimide (EMA) binding test”

EQA Calendar

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

Participation

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

Toolkit registration to the ring tests
Manual f or 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 ring test procedure with the participants during a debriefing meeting.

Contact

Scientific manager

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

Other contacts

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

Ynse Van de Maele
​+32 2 642 55 24
ynse.vandemaele@sciensano.be

Secretary

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

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