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Genetic Testing for the CdLS Spectrum (post birth)


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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.


Anbefaling(er)

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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Hvileansvar

Bemærk venligst, at Spørg eksperterne-tjenesten består af frivillige fagfolk inden for forskellige områder. Svarene betragtes ikke som en medicinsk, adfærdsmæssig eller pædagogisk konsultation. Spørg eksperten er ikke en erstatning for den pleje og opmærksomhed, som dit barns personlige læge, psykolog, uddannelseskonsulent eller socialrådgiver kan yde.

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