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Genetics WP - Genetic Testing for IEI in Italy

In Italy, genetic testing for inborn errors of immunity (IEI) is currently performed either at one of the Academic University Hospitals or IRCSS (Istituti di Ricovero e Cura a carattere Scientifico) with a Medical Genetics Department, or at accredited private genetics laboratories. The Department of human genetics of Academic institutions specialized in the diagnosis and therapy of IEI, are considered referral centers for the interpretation of IEI genomic data. In Italy, genetic counselling should precede and follow a genetic testing (pre-test and post-test) as recommended by the Ministry of Health. The diagnostic report must be signed by a geneticist with Medical Genetics specialty.

Genetics WP - Genetic Testing for IEI in Germany

In Germany, genetic testing for inborn errors of immunity (IEI) is being performed either at one of the 28 academic university centers who have a human genetics department, or at accredited private genetics laboratories. An academic center which has specialized on the interpretation of IEI genes, is for example the human genetics department at the Medizinische Hochschule Hannover (MHH; https://www.mhh.de/humangenetik/diagnostik-einsendungen/untersuchungsauftraege); a private laboratory specialized on IEI is e.g. CeGaT in Tübingen ( https://www.humangenetik-tuebingen.de/seltene-erkrankungen/).

Genetics WP - May 2022

The Working Party Genetics of the European Society for Immunodeficiencies (ESID) together with the molecular testing working group (WG) of ERN RITA organize a two day workshop on 30-31 May 2022 in the Imagine Institute in Paris. The topic of the workshop is “From high throughput sequencing to diagnosis in immune mediated disorders”.

Genetics WP - October 2021

Dear ESID members, The ESID Genetics WP plans, together with the molecular testing working group (WG) of ERN RITA, to organize a 2-day mini-symposium: “From high throughput sequencing to diagnosis”, in Spring 2022 at the Imagine Institute (Necker Hos...