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Genetic Testing for IEI in Slovakia
In Slovakia, genetic testing for inborn errors of immunity (IEI) is recommended by immunologist predominantly in 3 National Reference Centres for IEI (Martin, Bratislava, Košice) and the patient is sent to medical geneticist. Medical geneticist performs genetic counselling (pre-test and post-test), prescribes and selects the test and evaluates the results in the context of clinical symptoms, family history, laboratory patterns and functional testing (if available). Tissue samples (blood, buccal swab, urine) are sent to genetics laboratories which are mostly private. The counselling and also the testing is fully covered by public health insurance (PHI) if is indicated and acquires the informed consent. PHI in Slovakia is mandatory.
MPS (massively parallel sequencing, NGS) of clinical exome (CES) or whole exome (WES) are covered by PHI by law, but it is connected with longer waiting periods for results that can reach almost the year or longer....
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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.
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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/).
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Prof. Bodo Grimbacher
