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<article article-type="review-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">zdme</journal-id><journal-title-group><journal-title xml:lang="ru">Здоровье мегаполиса</journal-title><trans-title-group xml:lang="en"><trans-title>City Healthcare</trans-title></trans-title-group></journal-title-group><issn pub-type="epub">2713-2617</issn><publisher><publisher-name>ГБУ «НИИОЗММ ДЗМ»</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.47619/2713-2617.zm.2025.v.6i4-1;102-</article-id><article-id custom-type="elpub" pub-id-type="custom">zdme-302</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ОБЗОРЫ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEWS</subject></subj-group></article-categories><title-group><article-title>Диагностические тест-системы для оценки риска хронических и инфекционных заболеваний: основные принципы, подходы, преимущества и ограничения для массового использования</article-title><trans-title-group xml:lang="en"><trans-title>Diagnostic Test Systems for Assessing the Risk of Chronic and Infectious Diseases: Basic Principles, Approaches, Advantages and Limitations for Common Use</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-2464-7370</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Чернов</surname><given-names>А. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Chernov</surname><given-names>A. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Чернов Александр Николаевич – канд. биол. наук, старший научный сотрудник ГБУЗ «МНПЦЛИ ДЗМ».</p><p>115580, Москва, Ореховый б-р, д. 49, к. 1</p></bio><bio xml:lang="en"><p>Alexander N. Chernov – Cand. Sci. in Biology, Senior Researcher at the Moscow Scientific and Practical Center for Laboratory Research of the Moscow Healthcare Department.</p><p>115580, Moscow, South Administrative Okrug, Orekhovy Boulevard, 49, bldg. 1</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-5387-5554</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хомякова</surname><given-names>Е. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Khomyakova</surname><given-names>E. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Хомякова Екатерина Александровна – младший научный сотрудник ГБУЗ «МНПЦЛИ ДЗМ».</p><p>115580, Москва, Ореховый б-р, д. 49, к. 1</p></bio><bio xml:lang="en"><p>Ekaterina A. Khomyakova – Junior Researcher at the Moscow Scientific and Practical Center for Laboratory Research of the Moscow Healthcare Department.</p><p>115580, Moscow, South Administrative Okrug, Orekhovy Boulevard, 49, bldg. 1</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-8099-6877</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Щербакова</surname><given-names>А. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Shcherbakova</surname><given-names>A. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Щербакова Анастасия Сергеевна – канд. биол. наук, старший научный сотрудник ГБУЗ «МНПЦЛИ ДЗМ».</p><p>115580, Москва, Ореховый б-р, д. 49, к. 1</p></bio><bio xml:lang="en"><p>Anastasia S. Shcherbakova – Cand. Sci. in Biology, Senior Researcher at the Moscow Scientific and Practical Center for Laboratory Research of the Moscow Healthcare Department.</p><p>115580, Moscow, South Administrative Okrug, Orekhovy Boulevard, 49, bldg. 1</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-8771-4177</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Яковлева</surname><given-names>Д. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Yakovleva</surname><given-names>D. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Яковлева Динора Абдуллаевна – канд. мед. наук, старший научный сотрудник ФГБНУ НИИВС им. И.И. Мечникова, старший научный сотрудник ГБУЗ «МНПЦЛИ ДЗМ».</p><p>115580, Москва, Ореховый б-р, д. 49, к. 1; 105064, Москва, пер. Малый Казенный, д. 5a</p></bio><bio xml:lang="en"><p>Dinora A. Yakovleva – Cand. Sci. in Medicine, Senior Researcher at the I.I. Mechnikov Research Institute of Vaccines and Serums, Senior Researcher at the Moscow Scientific and Practical Center for Laboratory Research of the Moscow Healthcare Department.</p><p>115580, Moscow, South Administrative Okrug, Orekhovy Boulevard, 49, bldg. 1; 105064, Moscow, Malyi Kazennyi per. 5a</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0091-2224</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Глотов</surname><given-names>О. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Glotov</surname><given-names>O. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Глотов Олег Сергеевич – д-р биол. наук, начальник московского геномного центра ГБУЗ «МНПЦЛИ ДЗМ».</p><p>115580, Москва, Ореховый б-р, д. 49, к. 1</p></bio><bio xml:lang="en"><p>Oleg S. Glotov – Dr. Sci. in Biology, Head of the Genome Center, Moscow Scientific and Practical Center for Laboratory Research of the Moscow Healthcare Department.</p><p>115580, Moscow, South Administrative Okrug, Orekhovy Boulevard, 49, bldg. 1</p></bio><email xlink:type="simple">olglotov@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0000-8597-7125</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Комаров</surname><given-names>А. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Komarov</surname><given-names>A. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Комаров Андрей Григорьевич – главный внештатный специалист по клинической лабораторной диагностике ДЗМ, директор ГБУЗ «МНПЦЛИ ДЗМ».</p><p>115580, Москва, Ореховый б-р, д. 49, к. 1</p></bio><bio xml:lang="en"><p>Andrey G. Komarov – Chief Specialist in Clinical Laboratory Diagnostics of the Moscow Department of Healthcare, Director of the Moscow Scientific and Practical Center for Laboratory Research of the Moscow Healthcare Department.</p><p>115580, Moscow, South Administrative Okrug, Orekhovy Boulevard, 49, bldg. 1</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Московский научно-практический центр лабораторных исследований Департамента здравоохранения города Москвы</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Moscow Scientific and Practical Center for Laboratory Research of the Moscow City Health Department</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Московский научно-практический центр лабораторных исследований Департамента здравоохранения города Москвы; Научно-исследовательский институт вакцин и сывороток им. И.И. Мечникова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Moscow Scientific and Practical Center for Laboratory Research of the Moscow City Health Department; Federal State Budgetary Scientific Institution “I.I. Mechnikov Vaccine and Serum Research Institute”</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>23</day><month>12</month><year>2025</year></pub-date><volume>6</volume><issue>4</issue><fpage>102</fpage><lpage>120</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Чернов А.Н., Хомякова Е.А., Щербакова А.С., Яковлева Д.А., Глотов О.С., Комаров А.Г., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Чернов А.Н., Хомякова Е.А., Щербакова А.С., Яковлева Д.А., Глотов О.С., Комаров А.Г.</copyright-holder><copyright-holder xml:lang="en">Chernov A.N., Khomyakova E.A., Shcherbakova A.S., Yakovleva D.A., Glotov O.S., Komarov A.G.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.city-healthcare.com/jour/article/view/302">https://www.city-healthcare.com/jour/article/view/302</self-uri><abstract><p>В обзоре рассматриваются современные методы диагностики: секвенирование по Сэнгеру и секвенирование нового поколения (NGS), полимеразная цепная реакция (ПЦР) и ее модификации в реальном времени (ПЦР-РВ), иммуноферментный анализ (ИФА), высокоэффективная жидкостная хроматография (ВЭЖХ) и разработанные на их основе диагностические тест-системы (ДТС). На примере распространенных хронических и инфекционных заболеваний обсуждаются основополагающие принципы и современные варианты методик с указанием их достоинств и ограничений для клинического применения. Анализируются существующие на сегодняшний день проблемы, препятствующие широкому внедрению указанных методов диагностики в практику здравоохранения в России, а также направления их развития в ближайшем будущем.</p></abstract><trans-abstract xml:lang="en"><p>The review covers modern diagnostic methods: Sanger sequencing and next-generation sequencing (NGS), polymerase chain reaction (PCR) and its modifications in real time (RT-PCR), enzyme-linked immunosorbent assay (ELISA), high-performance liquid chromatography (HPLC) and diagnostic test systems (DTS) developed on their basis. Using common chronic and infectious diseases as an example, the fundamental principles and modern versions of these methods are discussed, indicating their advantages and limitations for clinical use. The current problems and factors hindering the widespread introduction of these diagnostic methods into healthcare practice in Russia, as well as directions of their development in the near future, are analyzed.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>обзор</kwd><kwd>диагностика</kwd><kwd>тест-системы</kwd><kwd>NGS</kwd><kwd>ПЦР в реальном времени</kwd><kwd>ИФА</kwd><kwd>ВЭЖХ</kwd><kwd>основные принципы</kwd><kwd>подходы</kwd><kwd>преимущества</kwd><kwd>ограничения тест-систем</kwd></kwd-group><kwd-group xml:lang="en"><kwd>review</kwd><kwd>diagnostics</kwd><kwd>test systems</kwd><kwd>NGS</kwd><kwd>real-time PCR</kwd><kwd>ELISA</kwd><kwd>HPLC</kwd><kwd>basic principles</kwd><kwd>approaches</kwd><kwd>advantages</kwd><kwd>limitations of test systems</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">статья подготовлена при поддержке Департамента здравоохранения города Москвы в рамках научно-исследовательской работы (№ ЕГИСУ: 125081809569-0) в соответствии с программой «Научное обеспечение столичного здравоохранения» на 2023–2025 гг.</funding-statement><funding-statement xml:lang="en">the article was prepared with the support of the Moscow Department of Healthcare as part of research work (EGISU No.: 125081809569-0) in accordance with the program “Scientific Support for Moscow Healthcare” for 2023–2025</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Мунассар М.А., Соснило А.И. Тенденции и перспективы глобального рынка медицинских инструментов для лабораторной диагностики. Научный журнал НИУ ИТМО. Серия «Экономика и экологический менеджмент». 2022;2:94-104. http://dx.doi.org/10.17586/2310-1172-2022-16-2-94-104</mixed-citation><mixed-citation xml:lang="en">Munassar M.A., Sosnilo A.I. Tend and forecast of Global Market instruments for laboratory Diagnostic. Sci. J. NRU ITMO. Series «Economics and Environmental Management». 2022;2:94-104. http://dx.doi.org/10.17586/2310-1172-2022-16-2-94-104 (In Russ.)</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Auerbach A.D., Lee T.M., Hubbard C.C. et al. Diagnostic Errors in Hospitalized Adults Who Died or Were Transferred to Intensive Care. JAMA Intern Med. 2024;184(2):164-173. https://doi.org/10.1001/jamainternmed.2023.7347</mixed-citation><mixed-citation xml:lang="en">Auerbach A.D., Lee T.M., Hubbard C.C. et al. Diagnostic Errors in Hospitalized Adults Who Died or Were Transferred to Intensive Care. JAMA Intern Med. 2024;184(2):164-173. https://doi.org/10.1001/jamainternmed.2023.7347</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Ciotti M., Nicolai E., Pieri M. Development and optimization of diagnostic assays for infectious diseases. LabMed Discov. 2024;1(2):100032. https://doi.org/10.1016/j.lmd.2024.100032</mixed-citation><mixed-citation xml:lang="en">Ciotti M., Nicolai E., Pieri M. Development and optimization of diagnostic assays for infectious diseases. LabMed Discov. 2024;1(2):100032. https://doi.org/10.1016/j.lmd.2024.100032</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Glotov O.S., Chernov A.N., Fedyakov M.A. et al. Personalized medicine: the role of sequencing technologies in diagnostics, prediction and therapy of multifactorial diseases. Biol. Communications. 2022;67(4):266-285. https://doi.org/10.21638/spbu03.2022.403</mixed-citation><mixed-citation xml:lang="en">Glotov O.S., Chernov A.N., Fedyakov M.A. et al. Personalized medicine: the role of sequencing technologies in diagnostics, prediction and therapy of multifactorial diseases. Biol. Communications. 2022;67(4):266-285. https://doi.org/10.21638/spbu03.2022.403</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Zhang S., Li X., Zhang L. et al. Disease types and pathogenic mechanisms induced by PM2.5 in five human systems: An analysis using omics and human disease databases. Environment Int. 2024;190:108863. https://doi.org/10.1016/j.envint.2024.108863</mixed-citation><mixed-citation xml:lang="en">Zhang S., Li X., Zhang L. et al. Disease types and pathogenic mechanisms induced by PM2.5 in five human systems: An analysis using omics and human disease databases. Environment Int. 2024;190:108863. https://doi.org/10.1016/j.envint.2024.108863</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Глотов О.С., Чернов А.Н., Глотов А.С. и др. Перспективы применения экзомного секвенирования для решения проблем в репродукции человека. Часть 1. Акушерство и гинекология. 2022;12:34-39. https://dx.doi.org/10.18565/aig.2022.221</mixed-citation><mixed-citation xml:lang="en">Glotov O.S., Chernov A.N., Glotov A.S. et al. Prospects for using exome sequencing to solve problems in human reproduction (Part I). Obstetrics and Gynecology. 2022;12:34-39. (in Russ) https://dx.doi.org/10.18565/aig.2022.221</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Sanger F., Coulson A.R. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J. Mol. Biol. 1975;94(3):441-448. https://doi.org/10.1016/0022-2836(75)90213-2</mixed-citation><mixed-citation xml:lang="en">Sanger F., Coulson A.R. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J. Mol. Biol. 1975;94(3):441-448. https://doi.org/10.1016/0022-2836(75)90213-2</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">International Human Genome Sequencing C. Finishing the euchromatic sequence of the human genome. Nature. 2004;431(7011):931-945. https://doi.org/10.1038/nature03001</mixed-citation><mixed-citation xml:lang="en">International Human Genome Sequencing C. Finishing the euchromatic sequence of the human genome. Nature. 2004;431(7011):931-945. https://doi.org/10.1038/nature03001</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Brenner S., Johnson M., Bridgham J. et al. Gene expression analysis by massively parallel signature sequencing (MPSS) on microbead arrays. Nat. Biotechnol. 2000;18(6):630-634. https://doi.org/10.1038/76469</mixed-citation><mixed-citation xml:lang="en">Brenner S., Johnson M., Bridgham J. et al. Gene expression analysis by massively parallel signature sequencing (MPSS) on microbead arrays. Nat. Biotechnol. 2000;18(6):630-634. https://doi.org/10.1038/76469</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Morganti S., Tarantino P., Ferraro E. et al. Chapter 8. Role of Next-Generation Sequencing Technologies in Personalized Medicine. P5 eHealth: An Agenda for the Health Technologies of the Future. Eds. by G. Pravettoni, S. Triberti; 2020. p. 125-145. https://doi.org/10.1007/978-3-030-27994-3_8</mixed-citation><mixed-citation xml:lang="en">Morganti S., Tarantino P., Ferraro E. et al. Chapter 8. Role of Next-Generation Sequencing Technologies in Personalized Medicine. P5 eHealth: An Agenda for the Health Technologies of the Future. Eds. by G. Pravettoni, S. Triberti; 2020. p. 125-145. https://doi.org/10.1007/978-3-030-27994-3_8</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Reuter J.A., Spacek D.V., Snyder M.P. High-throughput sequencing technologies. Mol. Cell. 2015;58(4):586-597. https://doi.org/10.1016/j.molcel.2015.05.004</mixed-citation><mixed-citation xml:lang="en">Reuter J.A., Spacek D.V., Snyder M.P. High-throughput sequencing technologies. Mol. Cell. 2015;58(4):586-597. https://doi.org/10.1016/j.molcel.2015.05.004</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Satam H., Joshi K., Mangrolia U. et al. Next-Generation Sequencing Technology: Current Trends and Advancements. Biology (Basel). 2023;12(7):997. https://doi.org/10.3390/biology12070997</mixed-citation><mixed-citation xml:lang="en">Satam H., Joshi K., Mangrolia U. et al. Next-Generation Sequencing Technology: Current Trends and Advancements. Biology (Basel). 2023;12(7):997. https://doi.org/10.3390/biology12070997</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Hu T., Chitnis N., Monos D., Dinh A. Next-generation sequencing technologies: An overview. Hum Immunol. 2021;82(11):801-811. https://doi.org/10.1016/j.humimm.2021.02.012</mixed-citation><mixed-citation xml:lang="en">Hu T., Chitnis N., Monos D., Dinh A. Next-generation sequencing technologies: An overview. Hum Immunol. 2021;82(11):801-811. https://doi.org/10.1016/j.humimm.2021.02.012</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Яшина Е.Р., Малахо С.Г. Анализ рынка геномного секвенирования в России. Современная экономика: проблемы и решения. 2016;5(77):181-188. https://doi.org/10.17308/meps.2016.5/1427</mixed-citation><mixed-citation xml:lang="en">Yashina E.R., Malakho S.G. Analysis of Russian genomic sequencing market. Modern Economics: Problems and Solutions, 2016;5(77):181-188. https://doi.org/10.17308/meps.2016.5/1427</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Wang Y., Zhao Y., Bollas A. et al. Nanopore sequencing technology, bioinformatics and applications. Nat. Biotechnol. 2021;39:1348-1365. https://doi.org/10.1038/s41587-021-01108-x</mixed-citation><mixed-citation xml:lang="en">Wang Y., Zhao Y., Bollas A. et al. Nanopore sequencing technology, bioinformatics and applications. Nat. Biotechnol. 2021;39:1348-1365. https://doi.org/10.1038/s41587-021-01108-x</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Richards S., Aziz N., Bale S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in medicine: official journal of the American College of Medical Genetics. 2015;17(5):405-424. https://doi.org/10.1038/gim.2015.30</mixed-citation><mixed-citation xml:lang="en">Richards S., Aziz N., Bale S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in medicine: official journal of the American College of Medical Genetics. 2015;17(5):405-424. https://doi.org/10.1038/gim.2015.30</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Kim K.-H. Genetics of Cardiomyopathy: Clinical and Mechanistic Implications for Heart Failure. Korean Circ. J. 2021;51(10):797-836. https://doi.org/10.4070/kcj.2021.0154</mixed-citation><mixed-citation xml:lang="en">Kim K.-H. Genetics of Cardiomyopathy: Clinical and Mechanistic Implications for Heart Failure. Korean Circ. J. 2021;51(10):797-836. https://doi.org/10.4070/kcj.2021.0154</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Abbas M.T., Baba Ali N., Farina J.M. et al. Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future. Biomedicines. 2024;12(3):682. https://doi.org/10.3390/biomedicines12030682</mixed-citation><mixed-citation xml:lang="en">Abbas M.T., Baba Ali N., Farina J.M. et al. Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future. Biomedicines. 2024;12(3):682. https://doi.org/10.3390/biomedicines12030682</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Glotov O.S., Chernov A.N., Glotov A.S. Human Exome Sequencing and Predictive Medicine: Analysis of International Data and Own Experience. J. of Personal. Med. 2023;13(8):1236. https://doi.org/10.3390/ jpm13081236</mixed-citation><mixed-citation xml:lang="en">Glotov O.S., Chernov A.N., Glotov A.S. Human Exome Sequencing and Predictive Medicine: Analysis of International Data and Own Experience. J. of Personal. Med. 2023;13(8):1236. https://doi.org/10.3390/jpm13081236</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Fedyakov M.A., Veleslavova O. E., Romanova O.V. et al. New frameshift mutation found in PKP2 gene in arhythmogenic right ventricular cardiomyopathy/dysplasia: a family case study. Вестник Санкт-Петербургского университета. Медицина. 2019;14(1):3-13. https://doi.org/10.21638/11701/spbu10.2019.101</mixed-citation><mixed-citation xml:lang="en">Fedyakov M.A., Veleslavova O.E., Romanova O.V. et al. New frameshift mutation found in PKP2 gene in arhythmogenic right ventricular cardiomyopathy/dysplasia: a family case study. Vestnik of Saint Petersburg University. Medicine. 2019;14(1):3-13. https://doi.org/10.21638/11701/spbu10.2019.101</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">Савостьянов К.В., Намазова-Баранова Л.С., Басаргина Е.Н. и др. Новые варианты генома российских детей с генетически обусловленными кардиомиопатиями, выявленные методом массового параллельного секвенирования. Вестник РАМН. 2017;72(4):242-253. https://doi.org/10.15690/vramn872</mixed-citation><mixed-citation xml:lang="en">Savostyanov K.V., Namazova-Baranova L.S., Basargina E.N. et al. The New Genome Variants in Russian Children with Genetically Determined Cardiomyopathies Revealed with Massive Parallel Sequencing. Annals of the Russian Academy of Medical Sciences. 2017;72 (4):242-253. (In Russ.) https://doi.org/10.15690/vramn872</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Lightbody G., Haberland V., Browne F. et al. Review of applications of high-throughput sequencing in personalized medicine: barriers and facilitators of future progress in research and clinical application. Briefings in Bioinformatics. 2019;20(5):1795-1811. https://doi.org/10.1093/bib/bby051</mixed-citation><mixed-citation xml:lang="en">Lightbody G., Haberland V., Browne F. et al. Review of applications of high-throughput sequencing in personalized medicine: barriers and facilitators of future progress in research and clinical application. Briefings in Bioinformatics. 2019;20(5):1795-1811. https://doi.org/10.1093/bib/bby051</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">Saiki R.K., Scharf S., Faloona F. et al. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science. 1985;230(4732):1350-1354. https://doi.org/10.1126/science.2999980</mixed-citation><mixed-citation xml:lang="en">Saiki R.K., Scharf S., Faloona F. et al. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science. 1985;230(4732):1350-1354. https://doi.org/10.1126/science.2999980</mixed-citation></citation-alternatives></ref><ref id="cit24"><label>24</label><citation-alternatives><mixed-citation xml:lang="ru">Higuchi R., Dollinger G., Walsh P.S. et al. Simultaneous amplification and detection of specific DNA-sequences. Bio-Technology. 1992;10:413-417. https://doi.org/10.1038/nbt0492-413</mixed-citation><mixed-citation xml:lang="en">Higuchi R., Dollinger G., Walsh P.S. et al. Simultaneous amplification and detection of specific DNA-sequences. Bio-Technology. 1992;10:413-417. https://doi.org/10.1038/nbt0492-413</mixed-citation></citation-alternatives></ref><ref id="cit25"><label>25</label><citation-alternatives><mixed-citation xml:lang="ru">Kubista M., Andrade J.M., Bengtsson M. et al. The real-time polymerase chain reaction. Mol. Aspects Med. 2006;27(2-3):95-125. https://doi.org/10.1016/j.mam.2005.12.007</mixed-citation><mixed-citation xml:lang="en">Kubista M., Andrade J.M., Bengtsson M. et al. The real-time polymerase chain reaction. Mol. Aspects Med. 2006;27(2-3):95-125. https://doi.org/10.1016/j.mam.2005.12.007</mixed-citation></citation-alternatives></ref><ref id="cit26"><label>26</label><citation-alternatives><mixed-citation xml:lang="ru">Zhu H., Zhang H., Xu Y. et al. PCR past, present and future. Biotechniques. 2020;69(4):317-325. https://doi.org/10.2144/btn-2020-0057</mixed-citation><mixed-citation xml:lang="en">Zhu H., Zhang H., Xu Y. et al. PCR past, present and future. Biotechniques. 2020;69(4):317-325. https://doi.org/10.2144/btn-2020-0057</mixed-citation></citation-alternatives></ref><ref id="cit27"><label>27</label><citation-alternatives><mixed-citation xml:lang="ru">Ngouth N., Monaco M.C., Walker L. et al. Comparison of qPCR with ddPCR for the quantification of JC polyomavirus in CSF from patients with progressive multifocal leukoencephalopathy. Viruses. 2022;14(6):1246. https://doi.org/10.3390/v14061246</mixed-citation><mixed-citation xml:lang="en">Ngouth N., Monaco M.C., Walker L. et al. Comparison of qPCR with ddPCR for the quantification of JC polyomavirus in CSF from patients with progressive multifocal leukoencephalopathy. Viruses. 2022;14(6):1246. https://doi.org/10.3390/v14061246</mixed-citation></citation-alternatives></ref><ref id="cit28"><label>28</label><citation-alternatives><mixed-citation xml:lang="ru">Mitton B., Rule R., Said M. Laboratory evaluation of the BioFire FilmArray Pneumonia plus panel compared to conventional methods for the identification of bacteria in lower respiratory tract specimens: a prospective cross-sectional study from South Africa. Diagn. Microbiol. Infect. Dis. 2021;99(2):115236. https://doi.org/10.1016/j.diagmicrobio.2020.115236</mixed-citation><mixed-citation xml:lang="en">Mitton B., Rule R., Said M. Laboratory evaluation of the BioFire FilmArray Pneumonia plus panel compared to conventional methods for the identification of bacteria in lower respiratory tract specimens: a prospective cross-sectional study from South Africa. Diagn. Microbiol. Infect. Dis. 2021;99(2):115236. https://doi.org/10.1016/j.diagmicrobio.2020.115236</mixed-citation></citation-alternatives></ref><ref id="cit29"><label>29</label><citation-alternatives><mixed-citation xml:lang="ru">Peri A.M., Ling W., Furuya-Kanamori L. et al. Performance of BioFire Blood Culture Identification 2 Panel (BCID2) for the detection of bloodstream pathogens and their associated resistance markers: a systematic review and meta-analysis of diagnostic test accuracy studies. BMC Infect. Dis. 2022;22(1):794. https://doi.org/10.1186/s12879-022-07772-x</mixed-citation><mixed-citation xml:lang="en">Peri A.M., Ling W., Furuya-Kanamori L. et al. Performance of BioFire Blood Culture Identification 2 Panel (BCID2) for the detection of bloodstream pathogens and their associated resistance markers: a systematic review and meta-analysis of diagnostic test accuracy studies. BMC Infect. Dis. 2022;22(1):794. https://doi.org/10.1186/s12879-022-07772-x</mixed-citation></citation-alternatives></ref><ref id="cit30"><label>30</label><citation-alternatives><mixed-citation xml:lang="ru">Доброхотова Ю.Э., Бондаренко К.Р., Гущин А.Е. и др. Результаты исследования цервико-вагинальной микробиоты методом ПЦР в реальном времени у беременных с угрожающими преждевременными родами. Акушерство и гинекология. 2018;11:50-59. https://dx.doi.org/10.18565/aig.2018.11.50-59</mixed-citation><mixed-citation xml:lang="en">Dobrokhotova Yu.E., Bondarenko K.R., Gushchin A.E. et al. The results of the examination of cervical-vaginal microbiota in pregnant women with threatened preterm birth using a real-time polymerase chain reaction. Obstetrics and Gynecology (Moscow). 2018;11:50-59. https://dx.doi.org/10.18565/aig.2018.11.50-59</mixed-citation></citation-alternatives></ref><ref id="cit31"><label>31</label><citation-alternatives><mixed-citation xml:lang="ru">Савочкина Ю.А., Румянцева Т.А., Долгова Т.И. и др. Разработка методики на основе количественной мутиплексной ПЦР для диагностики вульвовагинального кандидоза. Клиическая лабораторная диагностика. 2015;4:56-62.</mixed-citation><mixed-citation xml:lang="en">Savochkina Yu.A., Rumiantseva T.A., Dolgova T.I. et al. The development of technique of diagnostic of vulvovaginal candidiasis based on quantitative mutiplex polymerase chain reaction. Clin. Lab. Diagnostics. 2015;4:56-62. (In Russ.)</mixed-citation></citation-alternatives></ref><ref id="cit32"><label>32</label><citation-alternatives><mixed-citation xml:lang="ru">Чернов А.Н., Глотов О.С., Донников М.Ю. и др. Пренатальная генетическая диагностика: принципы, методы, применение и перспективы. Вестник СурГУ. Медицина. 2020;2(44):54-65. https://doi.org/10.34822/2304-9448-2020-2-54-65</mixed-citation><mixed-citation xml:lang="en">Chernov A.N., Glotov O.S., Donnikov M.Yu. et al. Prenatal genetic diagnostics: principles, methods, application and prospects. Surgut State University J. Medicine. 2020;2(44):54-65. https://doi.org/10.34822/23049448-2020-2-54-65 (In Russ.)</mixed-citation></citation-alternatives></ref><ref id="cit33"><label>33</label><citation-alternatives><mixed-citation xml:lang="ru">Engvall E., Perlmann P. Enzyme-linked immunosorbent assay (ELISA). Quantitative assay of immunoglobulin G. Immunochemistry. 1971;8(9):871-874. https://doi.org/10.1016/0019-2791(71)90454-x</mixed-citation><mixed-citation xml:lang="en">Engvall E., Perlmann P. Enzyme-linked immunosorbent assay (ELISA). Quantitative assay of immunoglobulin G. Immunochemistry. 1971;8(9):871-874. https://doi.org/10.1016/0019-2791(71)90454-x</mixed-citation></citation-alternatives></ref><ref id="cit34"><label>34</label><citation-alternatives><mixed-citation xml:lang="ru">Симирский В.В., Полуян О.С., Костюк С.А. и др. Технологические компоненты и методологические основы конструирования тест-систем для иммуноферментного анализа. Медицинские новости. 2023;1:37-44.</mixed-citation><mixed-citation xml:lang="en">Simirsky V.V., Poluyan O.S., Kostyuk S.A. et al. Technological components and methodological foundations for enzyme immunoassay test systems designing. Med. News. 2023; 1:37-44. (In Russ.)</mixed-citation></citation-alternatives></ref><ref id="cit35"><label>35</label><citation-alternatives><mixed-citation xml:lang="ru">Khan M., Shah S.H., Salman M. et al. Enzyme-Linked Immunosorbent Assay versus Chemiluminescent Immunoassay: A General Overview. Global J. of Med. Pharmac. Biomed. Update. 2023;18:1. https://doi.org/10.25259/GJMPBU_77_2022</mixed-citation><mixed-citation xml:lang="en">Khan M., Shah S.H., Salman M. et al. Enzyme-Linked Immunosorbent Assay versus Chemiluminescent Immunoassay: A General Overview. Global J. of Med. Pharmac. Biomed. Update. 2023;18:1. https://doi.org/10.25259/GJMPBU_77_2022</mixed-citation></citation-alternatives></ref><ref id="cit36"><label>36</label><citation-alternatives><mixed-citation xml:lang="ru">Messacar K., Parker S.K., Todd J.K. et al. Implementation of rapid molecular infectious disease diagnostics: the role of diagnostic and antimicrobial stewardship. J. Clin. Microbiol. 2017;55(3):715-723. https://doi.org/10.1128/JCM.02264-16</mixed-citation><mixed-citation xml:lang="en">Messacar K., Parker S.K., Todd J.K. et al. Implementation of rapid molecular infectious disease diagnostics: the role of diagnostic and antimicrobial stewardship. J. Clin. Microbiol. 2017;55(3):715-723. https://doi.org/10.1128/JCM.02264-16</mixed-citation></citation-alternatives></ref><ref id="cit37"><label>37</label><citation-alternatives><mixed-citation xml:lang="ru">Schubert M., Bertoglio F., Steinke S. et al. Human serum from SARS-CoV-2-vaccinated and COVID-19 patients shows reduced binding to the RBD of SARS-CoV2 Omicron variant. BMC Med. 2022;20(1):102. https://doi.org/10.1186/s12916-022-02312-5</mixed-citation><mixed-citation xml:lang="en">Schubert M., Bertoglio F., Steinke S. et al. Human serum from SARS-CoV-2-vaccinated and COVID-19 patients shows reduced binding to the RBD of SARS-CoV2 Omicron variant. BMC Med. 2022;20(1):102. https://doi.org/10.1186/s12916-022-02312-5</mixed-citation></citation-alternatives></ref><ref id="cit38"><label>38</label><citation-alternatives><mixed-citation xml:lang="ru">Мелкумян А.Р., Припутневич Т.В., Кочетов А.Г. и др. Микробиологическая диагностика инфекций, вызванных стрептококком группы B у беременных и новорожденных Тип клинических рекомендаций: Интерпретация и правила проведения клинических лабораторных исследований. Лабораторная служба. 2017;2:54-75. https://doi.org/10.17116/labs20176254-75</mixed-citation><mixed-citation xml:lang="en">Melkumyan A.R., Priputnevich T.V., Kochetov A.G. et al. Microbiological diagnosis of infections caused by Streptococcus group B in pregnant women and newborns. Clinical guideline. Laboratory Service. 2017;6(2):54-75. (In Russ.). https://doi.org/10.17116/labs20176254-75.</mixed-citation></citation-alternatives></ref><ref id="cit39"><label>39</label><citation-alternatives><mixed-citation xml:lang="ru">Jang A.-Y., Choi M.-J. Zhi Y. et al. Development and Validation of Enzyme-Linked Immunosorbent Assay for Group B Streptococcal Polysaccharide Vaccine. Vaccines. 2021;9(6):545. https://doi.org/10.3390/vaccines9060545</mixed-citation><mixed-citation xml:lang="en">Jang A-Y., Choi M.-J., Zhi Y. et al. Development and Validation of Enzyme-Linked Immunosorbent Assay for Group B Streptococcal Polysaccharide Vaccine. Vaccines. 2021;9(6):545. https://doi.org/10.3390/vaccines9060545</mixed-citation></citation-alternatives></ref><ref id="cit40"><label>40</label><citation-alternatives><mixed-citation xml:lang="ru">Оленев А.С., Коноплянников А.Г., Сонголова Е.Н. и др. Колонизация беременных стрептококком группы В: современное представление проблемы. Акушерство, гинекология и репродукция. 2022;16(2):182-193. https://doi.org/10.17749/2313-7347/ob.gyn.rep.2022.284</mixed-citation><mixed-citation xml:lang="en">Olenev A.S., Konopliannikov A.G., Songolova E.N., Stetsyuk O.V. Colonization of pregnant women with group B streptococcus: current view at the problem. Obstetrics, Gynecology and Reproduction. 2022;16(2):182-193. (In Russ.) https://doi.org/10.17749/2313-7347/ob.gyn.rep.2022.284</mixed-citation></citation-alternatives></ref><ref id="cit41"><label>41</label><citation-alternatives><mixed-citation xml:lang="ru">Hettegger P., Huber J., Passecker K. et al. High similarity of IgG antibody profiles in blood and saliva opens opportunities for saliva based serology. PLoS One. 2019;14(6):e0218456. https://doi.org/10.1371/journal.pone.0218456</mixed-citation><mixed-citation xml:lang="en">Hettegger P., Huber J., Passecker K. et al. High similarity of IgG antibody profiles in blood and saliva opens opportunities for saliva based serology. PLoS One. 2019;14(6):e0218456. https://doi.org/10.1371/journal.pone.0218456</mixed-citation></citation-alternatives></ref><ref id="cit42"><label>42</label><citation-alternatives><mixed-citation xml:lang="ru">Sacks D.B., Arnold M., Bakris G.L. et al. Guidelines and Recommendations for Laboratory Analysis in the Diagnosis and Management of Diabetes Mellitus. Diabetes Care. 2023;46(10):e151-e199. https://doi.org/10.2337/dci23-0036</mixed-citation><mixed-citation xml:lang="en">Sacks D.B., Arnold M., Bakris G.L. et al. Guidelines and Recommendations for Laboratory Analysis in the Diagnosis and Management of Diabetes Mellitus. Diabetes Care. 2023;46(10):e151-e199. https://doi.org/10.2337/dci23-0036</mixed-citation></citation-alternatives></ref><ref id="cit43"><label>43</label><citation-alternatives><mixed-citation xml:lang="ru">Jeppsson J.-O., Kobold U., Barr J. et al. Approved IFCC reference method for the measurement of HbA1c in human blood. Clin. Chem. Lab. Med. 2002;40(1):78-89. http://dx.doi.org/10.1515/CCLM.2002.016</mixed-citation><mixed-citation xml:lang="en">Jeppsson J-O., Kobold U., Barr J. et al. Approved IFCC reference method for the measurement of HbA1c in human blood. Clin. Chem. Lab. Med. 2002;40(1):78-89. http://dx.doi.org/10.1515/CCLM.2002.016</mixed-citation></citation-alternatives></ref><ref id="cit44"><label>44</label><citation-alternatives><mixed-citation xml:lang="ru">Ильин А.В., Арбузова М.И., Князева А.П. Гликированный гемоглобин как ключевой параметр при мониторинге больных сахарным диабетом. Оптимальная организация исследований. Сахарный диабет. 2008;11(2):60-64. https://doi.org/10.14341/2072-0351-5762</mixed-citation><mixed-citation xml:lang="en">Il’in A.V., Arbuzova M.I., Knyazeva A.P. Glycated hemoglobin as a key parameter in monitoring patients with diabetes mellitus. Optimal organization of testing. Diabetes mellitus. 2008;11(2):60-64. (In Russ.) https://doi.org/10.14341/2072-0351-5762</mixed-citation></citation-alternatives></ref><ref id="cit45"><label>45</label><citation-alternatives><mixed-citation xml:lang="ru">Mukherjee S., Yadav P., Ray S. et al. Clinical Risk Assessment and Comparison of Bias between Laboratory Methods for Estimation of HbA1c for Glycated Hemoglobin in Hyperglycemic Patients. Curr. Diabetes Rev. 2024;20(7):e261023222764. http://doi.org/10.2174/0115733998257140231011102518</mixed-citation><mixed-citation xml:lang="en">Mukherjee S., Yadav P., Ray S. et al. Clinical Risk Assessment and Comparison of Bias between Laboratory Methods for Estimation of HbA1c for Glycated Hemoglobin in Hyperglycemic Patients. Curr. Diabetes Rev. 2024;20(7):e261023222764. http://doi.org/10.2174/0115733998257140231011102518</mixed-citation></citation-alternatives></ref><ref id="cit46"><label>46</label><citation-alternatives><mixed-citation xml:lang="ru">Eyth E., Zubair M., Naik R. Hemoglobin A1C. In: StatPearls [Internet]; Treasure Island (FL): StatPearls Publishing; 2025. Доступно: https://www.ncbi.nlm.nih.gov/books/NBK549816</mixed-citation><mixed-citation xml:lang="en">Eyth E., Zubair M., Naik R. Hemoglobin A1C. In: StatPearls [Internet]; Treasure Island (FL): StatPearls Publishing; 2025. Доступно: https://www.ncbi.nlm.nih.gov/books/NBK549816</mixed-citation></citation-alternatives></ref><ref id="cit47"><label>47</label><citation-alternatives><mixed-citation xml:lang="ru">Гитель Е.П., Гиндис А.А., Панин В.В. и др. Актуальные аспекты определения и трактовки результатов исследования гликированного гемоглобина. Клиническая лабораторная диагностика. 2019;64(8):452-458.</mixed-citation><mixed-citation xml:lang="en">Gitel E.P., Gindis A.A., Panin V.V. et al. Relevant aspects of identification and interpretation of the glycated hemoglobin research findings. Klinicheskaya Laboratornaya Diagnostika (Russian Clinical Laboratory Diagnostics). 2019;64(8):452-458. (in Russ.)</mixed-citation></citation-alternatives></ref><ref id="cit48"><label>48</label><citation-alternatives><mixed-citation xml:lang="ru">Ali A.H. High-Performance Liquid Chromatography (HPLC): A review. Annals Adv. in Chem. 2022;6(1):010-020. http://dx.doi.org/10.29328/journal.aac.1001026</mixed-citation><mixed-citation xml:lang="en">Ali A.H. High-Performance Liquid Chromatography (HPLC): A review. Annals Adv. in Chem. 2022;6(1):010-020. http://dx.doi.org/10.29328/journal.aac.1001026</mixed-citation></citation-alternatives></ref><ref id="cit49"><label>49</label><citation-alternatives><mixed-citation xml:lang="ru">Zhou R., Wang W., Song Z‐X. et al. Evaluation of a new hemoglobin A1c analyzer for point‐of‐care testing. J. Clin. Lab. Anal. 2018;32(1):e22172. http://doi.org/10.1002/jcla.22172</mixed-citation><mixed-citation xml:lang="en">Zhou R., Wang W., Song Z.‐X. et al. Evaluation of a new hemoglobin A1c analyzer for point-of-care testing. J. Clin. Lab. Anal. 2018;32(1):e22172. http://doi.org/10.1002/jcla.22172</mixed-citation></citation-alternatives></ref><ref id="cit50"><label>50</label><citation-alternatives><mixed-citation xml:lang="ru">Ray A., Atal S., Sharma S. et al. Comparison of Glycated Hemoglobin (HbA1c) Values Estimated by High-Performance Liquid Chromatography and Spectrophotometry: A Pilot Study. Cureus. 2024;16(3):e56964. http://doi.org/10.7759/cureus.56964</mixed-citation><mixed-citation xml:lang="en">Ray A., Atal S., Sharma S. et al. Comparison of Glycated Hemoglobin (HbA1c) Values Estimated by High-Performance Liquid Chromatography and Spectrophotometry: A Pilot Study. Cureus. 2024;16(3):e56964. http://doi.org/10.7759/cureus.56964</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
