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We currently offer DNA mutation analysis of the CLN8 gene using PCR amplification and direct DNA sequencing of the three exons. Missense mutations have been reported in the CLN8 gene. 1
Please complete our NCL Clinical Features Checklist before ordering.
Sample Preparation: Sample Preparation (PDF)
Results of DNA analysis will be communicated in a written report to the referring professional.
DNA analysis is appropriate for the study of affected patients, for diagnostic confirmation in a suspected affected patient, and in prenatal testing situations after the family mutation has been identified in the proband.
1. Ranta, S. et al. (1999). The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nature Genetics 23, 233-236.
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