THE ROLE OF GENETIC TESTING IN CLINICAL LABORATORY DIAGNOSTICS OF HEREDITARY DISEASES IN CHILDREN

Gaffarova Sabina Xayrullo qizi; Isomadinova Lola Kamolidinovna; Karimova Linara Alixanovna

THE ROLE OF GENETIC TESTING IN CLINICAL LABORATORY DIAGNOSTICS OF HEREDITARY DISEASES IN CHILDREN

Authors

Gaffarova Sabina Xayrullo qizi Сadet of the Department of Clinical and Laboratory Diagnostics with a Course of PGD Clinical and Laboratory Diagnostics of Samarkand State University Samarkand, Uzbekistan
Isomadinova Lola Kamolidinovna Assistant of the Department of Clinical and Laboratory Diagnostics with a Course of PGD Clinical and Laboratory Diagnostics of Samarkand State University Samarkand, Uzbekistan
Karimova Linara Alixanovna Assistant of the Department of Clinical and Laboratory Diagnostics with a Course of PGD Clinical and Laboratory Diagnostics of Samarkand State University Samarkand, Uzbekistan

Keywords:

Genetic testing, hereditary diseases, pediatric diagnostics, next-generation sequencing (NGS), polymerase chain reaction (PCR), congenital disorders, metabolic disorders, chromosomal abnormalities, precision medicine, newborn screening, primary immunodeficiency, cancer predisposition syndromes, gene therapy, personalized medicine, ethical challenges.

Abstract

Hereditary diseases pose a significant challenge in pediatric medicine due to their diverse manifestations and potential lifelong consequences. Genetic testing has become an essential tool in clinical laboratory diagnostics, offering insights into the underlying genetic causes of these conditions. This article discusses the principles of genetic testing, its applications in diagnosing hereditary diseases in children, and the challenges and prospects of implementing these technologies in clinical practice.

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Published

2025-01-25

How to Cite

Gaffarova Sabina Xayrullo qizi, Isomadinova Lola Kamolidinovna, & Karimova Linara Alixanovna. (2025). THE ROLE OF GENETIC TESTING IN CLINICAL LABORATORY DIAGNOSTICS OF HEREDITARY DISEASES IN CHILDREN. Web of Medicine: Journal of Medicine, Practice and Nursing, 3(1), 237–240. Retrieved from https://webofjournals.com/index.php/5/article/view/3023