Hello, I'm new here where do you get genetic testing for glycogen disorders?
I am from canada, for me i got sent to a top specalist who ordered an open muscle biopsy to prove i have a muscle problem and to point them in the right direction as to what it could be. She is a neuromuscular specalist so that is the type of doctor you will have to see probably. she has me fill out paperwork to apply for coverage, takes blood sample, then the results take several months. on my next appointment if the testing comes negative she checks for something else
It depends what country you are in and to some exent on what condition you think it might be. Let us know the answers to those two questions. It is best to get testing done via a specialist doctor who can help you interpret the results.
I am the co-orodinator for the support group for McArdle Disease (Glycogen Storage Disease Type V) in the UK.