Rare Multisystem Ciliopathy Panel

Rare multisystem ciliopathies are genetic disorders caused by variants in genes affecting the structure or function of cellular appendages called primary cilia. These conditions are defined by a wide range of symptoms affecting multiple organ systems, such as kidney cysts, vision loss, skeletal abnormalities, and intellectual disability. They are often inherited in an autosomal recessive pattern, though the specific prevalence is not well-established due to their rarity and the broad range of affected genes. Well-known examples include Bardet-Biedl syndrome (BBS), Joubert syndrome (JBTS), and Meckel-Gruber syndrome (MKS).