Molecular genetic testing for neuronal ceroid lipofuscinoses.

Eight different NCL forms have been recognized to be encoded by genes CLN1-8. CLN1,2,3,5,and 8 have been cloned, and at least 85 mutations have been detected. Molecular technology can now be applied to genetic testing for NCLs; testing is now available in clinic diagnostic and research laboratories for CLN genes that have been cloned. Molecular genetic testing makes it possible not only to confirm clinical and pathological diagnoses but also to offer pre-symptom diagnosis and carrier screening for NCL families. In addition, DNA-based mutation analysis may predict prenatal outcome more accurately for pregnant women in NCL families.