hrp0098p1-250 | Fetal and Multisystem Endocrinology | ESPE2024

In an era of advanced genomic testing- is karyotype still relevant?

Shefer-Averbuch Noa , Smuel Zilberberg Keren

Background: The current era is marked by significant advancements in genomic medicine, characterized by innovative technologies in both cytogenetics and molecular methods. As these technologies evolve, costs decrease, making genetic testing more accessible and feasible. This trend is particularly evident in the field of genetic endocrine disorders. Presently, chromosomal microarrays and next generation sequencing are the predominant methods utilized. In the ne...