The Neurologist I went to regarding my systemic and muscle fatigue ran a GAA blood test, which confirmed I am a Pompe carrier. Pompe Disease is a glucose processing disorder of the muscles, including the intercostal rib muscles which make it hard to breath. Depending on your hero or homogeneity you will be infected, or not at all or just a carrier. There are enzyme treatments now for people who don't have enough enzymes and are highly symptomatic. etc, etc,
ANyway - he referred me to a genetics counselor at our local teaching hospital. The only one we had is connected to pediatrics however they handle all genetic testing referrals from Docs. Apparently once you know which gene you are looking for, its about 200 per test. If you're looking for many it could be quite a bit more expensive. If you have symptoms that warrant the testing, insurance will cover it.
This raises another question for me - have any of you done the 23&Me genetic testing? I wondered if anyone had found any useful gene stuff there?