Cone rod dystrophy is characterized by the dysfunction of the cones which, in a high percentage of cases, precedes a degeneration of the rods. Initial signs and symptoms that usually occur in childhood may include decreased sharpness of vision (visual acuity) , abnormal sensitivity to light (photophobia), and loss of central vision. It has a prevalence of 1: 30,000 – 1: 40,000 individuals. It is transmitted following all Mendelian patterns of inheritance: autosomal dominant, autosomal recessive, and sex-linked.
The DBGen Cone and Rod Dystrophy Panel includes the study of the coding regions of 55 genes and 73 non coding regions.
12 – 14 weeks