About Enzyme Testing for Neuronal Ceroid Lipofuscinosis

We strongly recommend enzyme testing before ordering DNA mutation screening. Enzyme testing for CLN1 or CLN2 is more cost effective, efficient and accurate than DNA testing.  However, enzyme testing is not a reliable test for carriers as there is overlap in "low normal" and "high carrier" enzyme levels.

About DNA Testing for Neuronal Ceroid Lipofuscinosis

If enzyme deficiency for CLN1 or CLN2 is documented, DNA mutational screening is helpful for genetic risk assessment in potential carriers and for prenatal testing.

Our lab currently offers DNA mutational screening and known mutation testing for the following NCL genes:

Prioritize Gene SelectionWhen ordering tests of more than one gene, please prioritize your order based on your clinical suspicion.

Although these disorders have historically been associated with a specific age of onset, there is significant variability of age of symptom presentation with each of the specific gene disorders.

Diagnostic possibilities and testing considerations should reflect assessment of available information including: symptom appearance and progression, age of onset of: seizures, visual failure, cognitive delay/dementia or motor abnormalities.  The presence and type of inclusions seen on EM studies of lymphocytes, skin, conjunctiva and/or other tissues can be particularly helpful in diagnostic prioritization. Our NCL Features Checklist (PDF) will help with your assessment.

Please Note: The term “Batten’s Disease” is commonly used as an umbrella term for several different clinical phenotypes of Neuronal Ceroid Lipofuscinosis (NCL).

If you prefer, we will review the clinical information that you provide and prioritize testing in our lab based on our clinical and testing experience. Please feel free to contact us if you would like to discuss particular clinical issues and diagnostic testing strategies.

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