Čes-slov Pediat 2025, 80(90):45-50 | DOI: 10.55095/CSPediatrie2025/050

Genetic testing in pediatrics

Petra Dušátková, Jan Lebl

Pediatrická klinika, 2. lékařská fakulta, Univerzita Karlova a Fakultní nemocnice v Motole, Praha

Since most, exclusively genetically determined diseases manifest in childhood, genetics is an important part of pediatrics. Genetic testing should be considered, for example, in children with significant developmental delay, intellectual disability of unclear origin

, dysmorphic features, abnormal physical growth, unusually early or severe onset of clinical conditions, or a positive family history of genetic disease. Genetic variations from the reference sequence range from a single nucleotide alteration

in a DNA strand to changes in the number of entire chromosomes and can therefore be detected by various molecular or cytogenetic methods. The development of these techniques and the availability of testing also raise ethical issues that should be adequately considered. Completely new possibilities for gene therapy are also opening up. The recognition of genetically determined diseases will thus e

nable adequate treatment decisions, assess potentially related comorbidities, and determine the risk of transmission to the offspring.

Keywords: genetics, genetically determined diseases, genetic testing, genetic methods, DNA, gene therapy

Accepted: September 23, 2025; Published: September 1, 2025  Show citation