Molecular 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