Genetic Diagnostics for Pediatric Hereditary Diseases: Exploring Chromosomal Karyotyping, Single Gene Mutation Screening, and Emerging Technologies

Abstract

This article comprehensively explores genetic diagnostic methods for pediatric hereditary diseases, focusing on chromosomal karyotyping, single gene mutation screening, and emerging technologies. It examines the significance of accurate genetic diagnosis in pediatric cases and emphasizes the role of genetic diagnostic methods in unraveling the underlying molecular basis of these diseases. The article discusses the principles, clinical applications, and case studies of chromosomal karyotyping and single gene mutation screening. It also delves into the ethical considerations and the crucial role of genetic counseling in informed decision-making. Additionally, the review discusses advancements in genetic technologies, compares diagnostic methods, and highlights future directions and challenges. Overall, the article underscores the importance of genetic diagnostics in improving patient outcomes and calls for continued research and collaboration in the field.