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 adults and a small proportion of children are tested in several commercial laboratories. In Russia, medical insurance is mandatory for all citizens, but genetic testing is not included in insurance coverage. In most cases, the cost of genetic testing is covered by a variety of charitable foundations.
Another option is genetic counseling at the Research Centre for Medical Genetics (RCMG), where clinical geneticists can prescribe a wide range of genetic tests, including high-throughput sequencing and reliable functional analysis when needed. In most cases, these diagnostic options are free of charge for patients through state funding or with support from various charitable foundations. In all instances, informed consent is obtained from the patient or their legal guardian, as applicable.
Expanded newborn screening (ENBS) for severe forms of T and B cell lymphopenia utilizing TREC and KREC detection was started nationwide in 2023. Flow cytometry is carried out at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology. Genetic testing as part of the ENBS program is performed at the Research Centre for Medical Genetics (RCMG), the national reference center for ENBS.
All diagnosed with IEI patients are required to be registered in the Russian PID registry maintained by the National Association of Experts in PID (NAEPID)
Natalia KUZMENKO, MD, PhD (plunge@list.ru); Anna MUKHINA, MD, PhD (ffmanya@yandex.ru)
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology, Moscow, Russia
Andrey MARAKHONOV, PhD (marakhonov@med-gen.ru)
Research Centre for Medical Genetics, Moscow, Russia
