Test for Malignant Hyperthermia

Although no outward signs of a problem may be manifested before the drugs are given, the drugs may trigger abnormal metabolic responses, such as a rapid rise in body temperature, muscle rigidity, and other complications that can result in a medical emergency.

Around one in 10,000 individuals has a susceptibility to MH, but most will not know this unless they receive general anesthesia. The only current test for MH susceptibility requires a muscle biopsy done at a specialized diagnostic center. The new genetic test requires only a blood sample from a patient suspected to be at risk. The test detects 25-50% of the mutations known to make an individual susceptible to the condition. If a doctor knows that a patient has one of these genetic mutations, other anesthesia drugs can be substituted when surgery is required. A review article on the test appeared in the June 15, 2005, issue of the Journal of the American Medical Association.

The test was developed by PreventionGenetics (Marshfield, WI, USA), with the assistance of a grant from the Malignant Hyperthermia Association of the United States (MHAUS, Sherburne, NY, USA). PreventionGenetics is a biotechnology company concentrating on molecular genetic diagnosis and DNA analysis.

"This test fits perfectly with our mission of preventing disease and disability through genetic testing,” stated James Weber, Ph.D., president of PreventionGenetics. "With this new test and working together with MHAUS and researchers, we should be able to make a major reduction in the rate of MH.”






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