TEST A MUSCLE SAVE A FAMILY
IVCT The in vitro contracture test on a muscle biopsy is the gold standard diagnosis of Malignant hyperthermia.
This is the test that needs to be done on the patient that had the acute MH attack in theatre. If this test is positive we can move on to search for the causative mutation in this patient in order to find a genetic diagnostic tool for the rest of the family.
Without the IVCT results no definitive diagnosis is possible.
If a family member gets tested with the IVCT, a small piece of muscle will be send to the genetic lab for RNA extraction and storage. This will be an excellent source for genetic material for the searching process to find the family’s causative mutation.