Usher syndrome (type I, II, III) is mainly characterized by hearing loss and retinitis pigmentosa, and in some cases presents vestibular dysfunction with balance affectation. It is inherited following an autosomal recessive inheritance pattern. Depending on the age of onset and the severity of the clinical features three types of Usher syndrome have been reported. Its prevalence is 1: 30,000 individuals. The most common form is Usher type II (60% of cases), and the major causing gene is USH2A.
The DBGen Usher Syndrome Panel analyzes 21 genes and 18 pathogenic variants located in non coding regions causing the pathology.
12 – 14 weeks