Clinical Pathology Ɩ Rare diseases

National Reference Centers (NRC) for rare diseases

The mission of the NRC for rare diseases is to put their specific expertise at the service of the diagnosis and monitoring of some rare diseases.

In 2019, 18 Belgian NRC for rare diseases were recognized and funded by the INAMI-RIZIV. They are responsible for carrying out 16 specific medical analyses in the field of clinical pathology. This recognition took place after a call for application (July to November 2017), followed by an assessment procedure (December 2017 to July 2018).
Sciensano opened a second call for application between March and July 2023 in order to enable (i) the existing NRC to renew their five-year recognition and funding for the same analyses and (ii) the extension of the scope of the NRC based on the proposal of analyses approved by the Belgian Commission for Clinical Pathology and the INAMI-RIZIV. The application period was followed by the assessment procedure (August to December 2023). This second call for application enabled the recognition of 21 NRC by the INAMI-RIZIV for the performance of 21 medical analyses of clinical pathology used for the diagnosis of rare diseases.

National Reference Centers for Rare Diseases

Quality controls focused on rare diseases 

Sciensano organises:

• international External Quality Assessment for some analyses of clinical pathology performed by the Belgian NRC for rare diseases, in collaboration with foreign laboratories of clinical pathology
• national External Quality Assessment for some analyses performed by the Belgian laboratories of clinical pathology in the context of rare diseases.

​​Rare diseases External Quality Assessment​

Outsourcing of analyses to foreign laboratories

The Belgian laboratories of clinical pathology are free to outsource the medical analyses of clinical pathology prescribed in the context of rare diseases and that are unavailable in Belgium to foreign academic medical laboratories. The outsourcing costs of these analyses are then reimbursed by Sciensano.

Outsourcing of analyses to foreign laboratories

“Rare diseases” working group of the Belgian Commission for Clinical Pathology (CCP) 

In 2015, a working group focused on rare diseases was created within the Belgian Commission for Clinical Pathology.

This working group is composed of clinical pathologists from the Belgian academic medical laboratories with a specialised expertise in the diagnosis and follow-up of rare diseases. The working group meets several times per year.

The tasks of the working group consist in assessing the needs in terms of (i) Belgian nomenclature codes for analyses of clinical pathology prescribed in the context of rare diseases, (ii) the activities, financing and follow-up of the NRC for rare diseases, (iii) the outsourcing of analyses that are not available in Belgium.

Scientific publications

• Strategies to improve the quality of reference networks for rare diseases.
  Vandevelde NM. Translational Science of Rare Diseases 5 (2020) 59–79.
• Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions.
  Vandevelde NM et al., Orphanet J Rare Dis. 2021 Feb 17;16(1):89.

Contact

Scientific managers

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

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

Secretary

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