Bardet-Biedl syndrome is a congenital multi-organ disorder characterized primarily by progressive vision loss, obesity, and polydactyly. In some cases it also causes alterations in intellectual development and abnormalities in the genitals. It is inherited following an autosomal recessive pattern. Its population frequency ranges between 1: 140,000/160,000 individuals. The DBGen Bardet-Biedl Syndrome Panel includes the study of the coding regions of 28 genes and 3 deep intronic mutations.