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We currently offer DNA mutation analysis of Parkin gene using PCR amplification and direct DNA sequencing of the coding exons as well as MLPA analysis.
Nonsense, missense, insertion and deletion mutations have been reported in Parkin gene. About 50% of the mutations in Parkin gene are large exonic deletions and duplications. These large DNA rearrangements can only be detected by quantitative assays as MLPA.
Sample Preparation: Sample Preparation (PDF)
Results of DNA analysis will be communicated in a written report to the referring professional.
ReasonDNA analysis is appropriate for the study of affected patients, for diagnostic confirmation in a presumed affected patient, and in carrier or prenatal testing situations after the family mutation has been identified in the proband.
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