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We are currently offering DNA mutation analysis of the CLN6 gene using PCR amplification and direct DNA sequencing of the coding exons. Nonsense, missense, insertion and deletion mutations have been reported 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.
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.
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