The neuronal ceroid-lipofuscinoses (NCLs) are a clinically and genetically heterogenous group of inherited neurodegenerative lysosomal storage disorders associated with intellectual and motor deterioration, seizures, and early death. Loss of vision is also a feature of most forms of NCL. Subtypes of the NCLs are classified by age of onset, which can be congenital, infantile, late infantile, juvenile (also known as Batten disease), or adult. Infantile, late infantile and adult NCLs often present with seizures as their first symptom. The first symptom of juvenile NCL is more likely to be rapid loss of vision. Intracellular accumulation of autofluorescent lipopigment storage material can be observed by doing electron microscopy (EM) studies on tissue or lymphocytes; subtypes of NCL may be differentiated by different ultra-structural patterns seen on EM.
Our Neuronal Ceroid-Lipofuscinoses Panel includes sequence and deletion/duplication analysis of all of the following 8 genes: CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1, TPP1.
Any gene in the Neuronal Ceroid-Lipofuscinoses Panel can also be ordered individually. Please contact us directly for cost and CPT code information.