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We currently offer DNA mutation analysis of the CTSD gene using PCR amplification and direct DNA sequencing of the coding exons. Various mutations have been reported in the CTSD gene.
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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