A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Dentists, geneticists and clinician-researchers studying tooth defects are often confronted by patients with genetic disorders that have striking dental defects such as the absence of some or several teeth, loss or defects in tooth enamel, and cleft palate among others. These defects can have a significant impact on the health and quality of life of these patients. Diagnosing the genetic cause of such defects is quite challenging as hundreds of genes have been implicated in these disorders. Prasad and colleagues have developed a new diagnostic test that takes advantage of next-generation sequencing technologies to efficiently identify the genetic defect in patients with rare genetic disorders that affect the teeth and the oral cavity. This test will enable clinicians and researchers to determine the genetic cause of dental defects in a large number of patients, thus enabling better patient care and treatment. (By Dr. Megana Prasad, http://jmg.bmj.com/content/early/2015/10/26/jmedgenet-2015-103302 )

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