Cockayne syndrome is a rare autosomal recessive multisystem disorder characterized by growth failure, mental retardation, progressive neurological dysfunction, premature aging, and photosensitivity. Variants in the DNA repair gene ERCC6 are responsible for the majority of Cockayne syndrome cases reported. The c.1293_1320del and c.2709+1G>T variants in exons 5 and 14 of the ERCC6 gene are the most frequent pathogenic variants found in the Amish population. This targeted test will specifically analyze these two variants.
1 - 2 weeks