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Inborn errors of immunity (IEI) are expected to be more prevalent in Iran than in many other regions, largely due to the high rate of consanguinity. This unique genetic background has enabled the discovery of numerous novels and complex IEI-associated genes, contributing to the global understanding of immune function. Despite these advances, many affected individuals remain undiagnosed, underscoring the gap between genetic potential and clinical recognition.

In Russia, genetic testing is mainly recommended for patients with IEI at one of the country's tertiary immunological centers located in Moscow: Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology Russian Children’s Clinical Hospital, Pirogov National Research Medical University National Research Center «Institute of Immunology» Federal Medical-Biological Agency of Russia Less frequently, genetic testing is recommended at regional centers for patients with IEI. Genetic testing for pediatric cases is primarily conducted at the Dmitry Rogachev National Medical Research Centre for Pediatric Hematology, Oncology and Immunology (https://fnkc.ru/index_en.jsp) where patients undergo a comprehensive immunological assessment, and a broad range of functional tests is available. Genetic testing includes Sanger sequencing, MLPA, NGS methods (custom gene panel, whole-genome sequencing), and FISH analysis. All...

In France, genetic testing for Inborn Errors of Immunity (IEI) is predominantly conducted at the Study Centre for Primary Immunodeficiencies (CEDI), located at the Necker Hospital in Paris. This laboratory is a National Reference Centre for IEI. The laboratory performs both immunological and genetic analyses for the diagnosis and ongoing monitoring of patients with IEI. The genetic tests are prescribed following discussions between physicians and biologists. The appropriate tests are selected and interpreted based on the patient's clinical symptoms, family history, laboratory patterns and functional testing (if available). The hospital laboratory studies various tissue samples, including: Blood or buccal swab for postnatal diagnosis Chorionic villi or amniotic fluid for prenatal diagnosis Two approaches are used for genetic analysis, depending on the clinical indication: Direct Sanger sequencing, or Targeted sequencing using a panel...

In Romania, genetic testing for inborn errors of immunity (IEI) is recommended by pediatric, internal medicine, medical genetics, rheumatology, pediatric hematology and immunology-allergology specialists. The (pre-test and post-test) genetic counselling is mainly performed in one of the seven National Reference Centres for Medical Genetics (see below). If the genetic testing is indicated and consented, tissue samples (usually blood) are sent to genetics laboratories from two Regional Centers of Medical Genetics (Timis and Dolj). The cost of genetic testing (clinical exome or whole exome sequencing WES) is supported from the National Program for Rare diseases. Turnaround time may vary, from (usually) 3-4 months to a year, due to limitations of funding. The counselling is fully covered by public health insurance. In urgent situations, or at the indication of the doctors, or the desire of the patients/family samples are sent to private laboratories,...

In the Czech Republic, genetic testing for inborn errors of immunity (IEI) is primarily conducted at specialized academic/ university hospital laboratories. The main institutions performing these tests are the Molecular Genetic Laboratory, affiliated with the Centre of Cardiovascular Surgery and Transplantation and the Medical Faculty of Masaryk University in Brno, and, to a lesser extent, the Laboratory of Molecular Genetics, Childhood Leukaemia Investigation Prague, at the University Hospital Motol in Prague. These laboratories work closely with one another, as well as with clinical immunologists and geneticists, to ensure accurate analysis and interpretation of test results. Genetic testing for IEI is typically recommended by an immunologist, who then refers the patient to a medical geneticist. The medical geneticist is responsible for conducting genetic counselling, both pre-test and post-test, prescribing and selecting the appropriate...

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....

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.

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/).