Genetic Testing for the CdLS Spectrum (post birth)

        Para pais, prestadores de cuidados, prestadores de cuidados de saúde e professores, surgem frequentemente preocupações e questões relativas aos cuidados e bem-estar dos indivíduos com síndrome de Cornelia de Lange (CdLS). 

Genetic tests have been developed to identify changes in any of the genes associated with the CdLS spectrum. A referral to a clinical geneticist can be made if parents feel that it would be useful to discuss the possibility of testing for the child with a CdLS spectrum syndrome. Genetic testing is not always appropriate or necessary (particularly if a doctor is very certain about the clinical diagnosis), but would be the only way to approach prenatal testing for future pregnancies.

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