What is progress/status of a blood test vs. a muscle biopsy?
The muscle biopsy is still the definitive test. However, for some families, it is possible to have a blood test to see if any of the agreed diagnostic MH genes are present. If that is the case, then someone can be diagnosed as positive. However, it is very important to realise that if the test does not reveal one of the agreed genes, the person cannot be called negative. They may have a gene which has not been found yet. This person would still need a muscle biopsy.
