Optimizing Genetic Diagnosis of Neurodevelopmental Disorders in the Clinical Setting.
Clin Lab Med
; 40(3): 231-256, 2020 09.
Article
en En
| MEDLINE
| ID: mdl-32718497
Progress in medical genetics has changed the practice of medicine in general and child neurology in particular. A genetic diagnosis has become critically important in determining optimal management of many neurodevelopmental disorders, making genetic testing a routine consideration of patient care in outpatient and inpatient settings. Today's child neurologists should be familiar with various genetic testing modalities and their appropriate use. Molecular genetic testing of children with unexplained developmental delays and/or congenital anomalies has a 20% to 30% chance of identifying a causative etiology. Newer methods have made genetic testing more widely available and sensitive but also more likely to produce ambiguous results.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
/
Trastornos del Neurodesarrollo
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
/
Humans
Idioma:
En
Revista:
Clin Lab Med
Año:
2020
Tipo del documento:
Article
Pais de publicación:
Estados Unidos