Abstract

IZQUIERDO, Luis. New genetic testing algorithm for evaluation of neurodevelopmental disorders. Medicina (B. Aires) [online]. 2022, vol.82, suppl.1, pp.11-16. ISSN 0025-7680.

In more than half of neurodevelopmental disorders, a genetic etiology is demonstrated. The detection of these pathogenic variants has a huge impact on the course of the disease of these patients. It allows the acceptance of the disease by the parents of the patients, issue a prognosis, anticipate the future consequences of the disease and in more and more cases establish a treatment or change the one already established. The genetic techniques that allow these etiological diagnoses are very recent therefore not yet fully assumed by neuropediatricians. Even in the diagnostic guides of the different scientific societies, their algorithms are outdated by the quick incorpora tion of new techniques. This article reviews the current techniques as well as the latest advances in them that are being incorporated into clinical practice.

Keywords : Neurodevelopmental disorders; Genetic tests; Latest advances.

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