Test Description

We currently offer DNA mutation analysis of the PPT1 gene using PCR amplification and direct DNA sequencing of the coding exons.  However, only PPT1 enzyme deficient samples are recommended for full sequencing.  Familial known mutation testing is available to family members.  Nonsense, missense, splicing mutations, small insertion and deletion mutations have all been reported in the PPT1 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.


updated 8/6/2012

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