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Test Description

We currently offer DNA mutation analysis of the THAP1 gene using PCR amplification and direct DNA sequencing of the coding exons.  Nonsense, missense, splicing mutations, small insertion and deletion mutations have all been reported in the SGCE 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.  

Updated 8/6/2012

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