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We currently offer targeted DNA mutation analysis of the MCOLN1 gene using PCR amplification and direct DNA sequencing for the major mutation and MLPA analysis for the minor mutation.
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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