This chapter describes methods related to the diagnosis of genetic dental diseases. Based on the present knowledge, clinical phenotyping and next-generation sequencing techniques are discussed. Methods necessary for Sanger sequencing, multiplex ligation-dependent probe amplification, and epigenetic modification methods are detailed. In addition, protocols for cell culture establishment and characterization from patients with inherited dental anomalies are described.
Keywords: Amelogenesis imperfecta; Cell culture; Dentin inherited disorders; Epigenetics; Next-generation sequencing; Tooth agenesis.