R9
R9: If available, first-line molecular testing is performed using next-generation sequencing-based technology 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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