Genetic Testing of Neurodevelopmental Disorders in Israel.

ABSTRACT:

Importance

Genetic testing is the criterion standard for diagnosing neurodevelopmental disorders (NDDs), with chromosomal microarray analysis (CMA) used as a first-line test for autism, intellectual disability, or global developmental delay. Despite advancements in genetic testing technologies and integration into health care systems, data on clinical use remain limited.

Objective

To evaluate genetic counseling and testing rates in patients with major NDDs and these individuals' clinical and sociodemographic characteristics.

Design, setting, and participants

This longitudinal, retrospective, population-based cohort study analyzed electronic health records of individuals born between 2000 and 2020 and insured by Clalit Health Services, the largest health maintenance or

SUBMITTER: May D 

PROVIDER: S-EPMC12365703 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature