DNA Diagnostic Testing for Finnish variant Late Infantile Neuronal Ceroid Lipofuscinosis Deletion/Duplication Analysis (CLN5, fLINCL, CLN5)

Test Description

Large deletions involving entire exon(s) in the CLN5 gene have been reported in patients with CLN5. We use MLPA technology (multiplex ligation-dependent probe amplification) to detect large DNA rearrangements (deletions and duplications) in the CLN5 gene.

Please complete our NCL Clinical Features Checklist before ordering.

Sample Preparation: Sample Preparation (PDF)

Results

Results of DNA analysis will be communicated in a written report to the referring professional.
Reason

This analysis is appropriate for patients who had previous CLN5 test by sequencing method but only one point mutation or no mutation was found, and for offspring/sibling and prenatal testing when the large DNA rearrangement has been confirmed in the affected family member. If you were tested by us previously, please check with us whether we still have adequate amount of DNA to complete the MLPA study. 

 

updated 8/1/2012