Neurogenetics DNA Diagnostic Laboratory: Testing for Mutations Associated with Hypokalemic Periodic Paralysis (HOPP)

  • Phone: 617-726-5721

Test Description

We currently offer PCR-based expanded targeted sequence enzyme digest assays to detect 18/44 exons in the CACNL1A3 gene associated with Hypokalemic Periodic Paralysis (HOPP). These three mutations are the only ones that have been identified in the CACNL1A3 gene that cause HOPP.

Sample Preparation: Sample Preparation (PDF)

Results

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

Reason

Analysis is appropriate for the study of affected patients, for diagnostic confirmation of a presumed affected individual, and for presymptomatic individuals with a family history of HOPP. Direct mutational testing can be done in cases where family mutation is known.

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