Jul 04, 2022
Recommendations for whole genome sequencing (WHS) in diagnostics for rare diseases
Marielle van Gijn from our... Read More
Read moreMolecular Testing working GROUP
Objectives
- To obtain a standardized and uniform European-wide approach for the molecular diagnosis of monogenic immune–mediated disease ensuring accessibility for state of the art genetic diagnostics for all patients; evaluated by audit against quality standards.
- The functional assay list (click here to view), developed by the ERN RITA Molecular Testing Working Group, provides you with a list of laboratories and highly specialized functional testing for primary immunodeficiency, autoimmunity and autoinflamation. These laboratories welcome samples from throughout Europe and may be able to undertake additional testing if required. The following tests should be available in most countries: T,B naïve, memory immunophenotyping including Tregs, neutrophil panel, MHC1 and DR; proliferation assays including PHA, CD3 stimulation and antigen recall; vaccine responses; immunoglobulin and complement measurement and functional complement assays; NBT/DHRs.
- If these are not available in your country, please contact any of the laboratories listed as they should be able to also perform these assays or can direct you to a laboratory that can.
- For feedback, questions or if you wish to add or amend information in this table please email contact-rita@ern-net.eu
Activities
Team
Chair
Marielle van Gijn
University Medical Center GroningenAdditional activities
Mar 11, 2022
From high throughput sequencing to diagnosis in immune mediated disorders
ESID/ERN-RITA Workshop
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Jul 02, 2021
Do you speak immunology? A new language for congenital immune disorders
(Vienna, 30.06.2021) A detailed vocabulary... Read More
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