Genetic testing of Behçet's disease using next-generation sequencing to identify monogenic mimics and HLA-B*51.
Alice BurleighEbun OmoyinmiCharalampia PapadopoulouEslam Al-AbadiYing HongFiona Price-KuehneElena MoraitisHannah TitheradgeFrancesca MontesiDiane XuDespina EleftheriouPaul BroganPublished in: Rheumatology (Oxford, England) (2023)
We describe a novel genetic workflow for BD, which can efficiently detect known and potentially novel monogenic forms of BD, whilst additionally providing HLA-typing. Our results highlight the importance of genetic testing before BD diagnosis, since this has impact on choice of therapy, prognosis, and genetic counselling.