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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.
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