Neurogenetics DNA Diagnostic Laboratory: Testing for Mutations Associated with Hyperkalemic Periodic Paralysis (HYPP; SCN4A)

  • Phone: 617-726-5721

Test Description

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

Results of DNA analysis will be communicated in a written report to the referring professional.

Reasons

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.

 

 

updated 5/24/2012