The most accurate diagnostic test for MH is a specific muscle biopsy from the leg. This biopsy measures the contraction of the muscle with exposure to caffeine and halothane. This test, which is called the Caffeine-Halothane Contracture test (CHCT), still remains the "gold standard" to establish MH susceptibility in patients.

MH is inherited; several genetic abnormalities can be found in some MH patients. In 2005, molecular genetic testing for MH was introduced. Since DNA can be extracted from blood cells, it can be searched for genetic mutations known to cause MH. However, the genetic test yields a low sensitivity for diagnosis of MH, and in the majority of situations cannot replace CHCT. At the moment, the test is limited to specific individuals already known to be MH-susceptible and their family members.

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