Usually,
but not always, there are physical characteristics present in FA patients. You can read more at
http://www.fanconi.org/learn_more
IST is not a treatment for FA.
It is important to be tested for FA before undergoing a BMT because the transplant regimen is very different. FA patients can't tolerate radiation or chemotherapy.
To test for FA, a blood sample is taken and mixed with DEB to look for chromosome breakage. There are a few specialized labs that do this. Hopefully, your hematologist knows of one in your country or the website can direct you to it.
FA is a rare disease, but it is important that you be tested for it if you have AA and are considering a BMT.