Neuronal Ceroid-Lipofuscinoses Panel

The neuronal ceroid-lipofuscinoses (NCLs) are a clinically and genetically heterogenous group of inherited neurodegenerative lysosomal storage disorders associated with variable, yet progressive, symptoms, including seizures, dementia, visual loss, and/or cerebral atrophy. Four main clinical forms have been delineated (infantile, late infantile, juvenile, and adult), but many other variants have also been described. Although varying widely in their age of onset and rate of progression, all forms of NCL display pronounced accumulation of autofluorescent material within the lysosome due to its dysfunction. The NCLs are typically inherited in an autosomal recessive pattern. Adult NCL, which can be associated with pathogenic variants in CLN3, CLN5, CLN6, CTSD and PPT1, can be inherited in either an autosomal recessive or autosomal dominant pattern. This panel includes sequence and deletion/duplication analysis of all the listed genes.