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Test Description

We currently offer full gene mutation analysis of the SCN4A gene using PCR amplification and direct DNA sequencing of the entire coding regions (24 exons).  This analysis can be ordered as a stand-alone test or a second-tier test for HYPP, HOPP-2, NormoPP and PMC targeted mutation analysis.

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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