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Diagnostic Testing

When significance of a variant with respect to MH susceptibility is unknown, it is appropriate for the patient to be offered definitive testing for MH susceptibility using muscle biopsy and in vitro contracture tests.

For a patient presenting to the neurology clinic with features associated with MH susceptibility where DNA analysis is unhelpful in providing a diagnosis a muscle biopsy may be considered as part of the neurological diagnostic pathway.  If this is the case, consideration should be given to having the muscle biopsy done at a MH centre so that the  MH susceptibility status of the patient can be clarified, as well as other standard neuropathological examinations undertaken.

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