DS had genetic testing done because I have a connective tissue disorder and they said he has it as well, but on the genetic testing they found changes in the gene "COL241" and "TNXB." I'm not sure what these are or what they mean. They now want to test his bio father and I. I don't believe that his bio father will go because we would have to travel from AL to SC for the testing. I do believe the TNXB gene mutation is normal in Elhers Danlos Syndrome (The connective tissue disorder we have), but I'm not sure. They acted like it could be pretty serious in letter. Has anyone else ever dealt with anything like this? DS also has autism.
Yes, the change on the TNXB gene is for the connective tissue disorder. I can't find any information on the changes in COL241, though.
I think it would be a good idea for your son's father to be tested, just in case there is something he could pass on to any future children he has. I hope you get some answers. I'm unfortunately no other help.