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We currently offer PCR-based restriction enzyme digest assays to detect four mutations [T704M, M1360V, M1592V, and I693T] in the SCN4A gene associated with Hyperkalemic Periodic Paralysis (HYPP). This allows for a detection rate of >90% of previously reported mutations in the SCN4A gene.
Sample Preparation: Sample Preparation (PDF)
Results of DNA analysis will be communicated in a written report to the referring professional.
Analysis is appropriate for the individuals with clinical phenotype of (HYPP) for diagnostic consideration and/or confirmation. It is possible to evaluate and possibly identify a disease mutation in unaffected carriers (presymptomatic individuals) with a family history.
Note: Because of the variation in clinical phenotypic expression we require that genetic counseling be obtained prior to request for presymptomatic testing.
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