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Genetic Testing for the CdLS Spectrum (post birth)

      
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange syndrome. 

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.


Recommendation(s)

Genetic Testing for the CdLS Spectrum (post birth)

R9
If available, first-line genetic testing should be performed using panel sequencing to screen all genes known to cause CdLS spectrum (NIPBL, SMC1A, SMC3, RAD21, BRD4, HDAC8 and ANKRD11). Medico-legal, technical, and insurance-related national practices may require other tests, such as Sanger sequencing of individual genes.

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