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. 

Institutional Price 
$2,000.00
TAT 
6 weeks
CPT Code 
81406
81479
Test Code 
4113
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Additional Information 
If sending saliva, 2 kits are required.
Any gene in the Neuronal Ceroid-Lipofuscinoses Panel can also be ordered individually. Please contact us directly for cost and CPT code information.