Neurogenetics DNA Diagnostic Laboratory: Neuronal Ceroid Lipofuscinosis (NCL) DNA and Enzyme Test Information Sheet
- Phone: 617-726-5721
REQUIRED FOR ALL ORDERS
- General Requisition Form
- Test Addition Form
- NCL Checklist
- Sample Preparation
- Consent Form
- Medical Release Form
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:
- CLN 1 [Infantile, full screen of 9 coding exons]
- CLN 2 [Classic Late Infantile full screens]
- CLN 3 [Juvenile; 1.02kb deletion, and full screen of 15 coding exons]
- CLN 5 [Finnish variant Late Infantile Neuronal Ceroid Lipofuscinosis]
- CLN 5 MLPA
- CLN 6 [Variant late Infantile]
- CLN 8 (PMR full screen)
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.