Testing. Enzymatic and genetic mutation analysis testing through special blood work that your physician can order.
Genetic testing. There are genetic tests that are available. If it is a strong concern as a female, you can see genetic counselor before becoming pregnant or if are pregnant. In a male, you can get tested. The testing is not standard because it is rare condition. Be careful about insurance problems if you are tested and come up positive as it now is a flag even though you have no chance of getting the disorder.