Negative gene test?
Hi, everyone! I thought for SURE I had marfans, or at least something similar. My provider called me today to let me know my genetic testing all came back negative. It was the 92-gene panel for connective tissue disorders through Invitae. I guess I’m looking for some insight, I’ve had such random things happen to me and it feels like it’s too much to be coincidental.
I have-
-Moderate scoliosis, needed bracing in middle school
-Retinal detachments with severe nearsightedness
-Weak pelvic floor for my whole life
-Bilateral vertebral artery dissections (once)
-Joint instability but no pain
-Short torso, long fingers
-Cervical neck instability
However, I had an echo last year and my aortic root is normal. I’m 5’5” so not super tall. I’m not hyper mobile by any means. ANA was negative.
The genetic counselor was so nice and did say they’re always discovering new genes so he would reach back out in 2-3 years to see if we want to retest depending on if anything new has been found.
Just wanted to see if anyone has any insight or ideas. I’ll meet with my primary soon, too. Thanks in advance!