MH is a genetically inherited disorder. This means that it can be transferred from parent to child. In some families with MH, there is a change (mutation) in their DNA (the blueprint of body makeup) and this can be identified with a blood test. There are many different mutations that have been found to cause MH.
If you are the first person in your family to be diagnosed with MH, with your permission, at the time of your muscle biopsy you will have some blood taken and examined for all currently known MH genetic changes.
If one of these changes is found in your DNA your family members can access a genetic test for MH.
If no changes mutations are identified, your blood and muscle will be stored in our laboratory and tested as new genetic mutations are identified in the MH community.
A consent form for this process and future research is available for download here.
If you are a relative of a person who has already had a positive blood test, your blood will be examined to determine whether or not you have the same genetic change. If you have the same change (mutation) you can be diagnosed as Malignant Hyperthermia Susceptible (MHS) without the need for a muscle biopsy.
If you do not have the same change as your relative, you will still need a muscle biopsy to rule out malignant hyperthermia. This is because a negative genetic result is not a 100% guarantee that you are not at risk of MH.
Here is a flowchart for MH testing which summarises genetic testing and muscle biopsy.