Scientific Article 🇬🇧 Directly KS related

Episignature-based modelled first-tier diagnostic approach in the Dutch Caribbean: advancing equal care through epigenetic classification

person Liselot van der Laan, Liselot van der Laan, Amanda Luijckx, Shirley Lo-A-Njoe, Ginette M. Ecury-Goossen, Farah A. Falix, Sonja Faries, Meindert E. Manshande, Patricia A. E. A. C. Philippi, Patricia A. E. A. C. Philippi, Marcel M

calendar_today May 20, 2026

This study tested EpiSign™ as an early diagnostic tool for rare disorders in the Dutch Caribbean, where advanced genetic testing is limited. In 19 patients, it helped diagnose six cases, including Fragile X, MRX93, ReNU syndrome, and Kleefstra syndrome 1. The findings support episignature testing as a practical way to improve access to genetic diagnosis.