Title : Diagnostics for Rare Diseases
Description : Centogene's extended NGS panel analyses covers amongst others Cornelia de Lange syndrome, a developmental disorder that affects multiple body parts and displays a broad range of clinical symptoms and severity. While mutations in one of three genes (NIPBL, SMC1A and SMC3) are considered to be the primary reason for the disease, in about 35% of cases the cause of Cornelia de Lange syndrome remains unknown. For this reason, our NGS panel includes two further genes (RAD21 and HDAC8) which were recently found to be associated with Cornelia de Lange syndrome.For detailed information on panels, please refer to our test catalogue.