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Large deletions involving entire exon(s) in the CLN6 gene have been reported in patients with CLN6. We use MLPA technology (multiplex ligation-dependent probe amplification) to detect large DNA rearrangements (deletions and duplications) in the CLN6 gene.
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.
This analysis is appropriate for patients who had previous CLN6test 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.
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