Am I a carrier?
My son was recently Dx with DMD. There is no sign of it in my family and I suspect that I am not a carrier, but for my daughters sake, I need to find out. My MD says that only 1 place they know of does the test. It is @ the Univ. of Utah and they only accept cash. Anyone else know where to get tested?
Replies to This Discussion
-
Permalink Reply by Paul Cliff on
-
This is an example of the stuff that's going to drive you nuts. I'm pretty sure that your doctor is about 100% wrong, unless we somehow had a unique experience. The University of Utah accepts insurance payment when they do testing; moreover, if you sign onto their research project, they may do it for free.
Contact these people:
Clinical Research Coordinator
University of Utah
EIHG 4440
15 N. 2030 E.
Salt Lake City, UT 84112
801-585-1299
abringard@genetics.utah.edu
Also, there are other tests that detect carrier status. Contact Duchenne Connect
https://www.duchenneconnect.org/
Lastly, in 2/3 of all dmd cases there is no family history. You could be a carrier if the spontaneous mutation occurred when the egg that became you was fertilized or when the sperm or egg supplied by your parents were created in their bodies. There can be risks to being a carrier so it's not just for your daughter's sake but for you and your son that you'll want to pin this down.
-
Permalink Reply by Jennifer Collier on
-
I don't remember who did my test, but they just draw blood and send it to a lab. I am sure it wasn't the University of Utah. It seems to me that any lab could do it. Our neurologist at Duke had them draw my blood and they sent it out. It takes about 5-6 weeks to get the results back. I also have no family history, but it turns out I am a carrier. I have an uncle, a brother, and a male cousin all unaffected.
~Jen
-
Permalink Reply by Jennifer Shumsky on
-
The MDA will cover your test. Contact your local office and they should help you take care of that without any problem. They even covered my sister's carrier testing. I have no family history, I am a carrier, my sister was not. My mother refuses to be tested. We will have my daughter tested when she makes that choice for herself.
-
Permalink Reply by Veronica E. on
-
We tested through Baylor University, and the testing was covered 100% (this was three months ago).
-
Permalink Reply by Karen Barnett on
-
Christine,
I'm sorry about your son's recent diagnosis. Like you, we have no family history either.
My son's bloodwork was sent to Baylor when he was diagnosed. They sequenced the whole gene and detected his specific mutation - deletion of exon 51. When they tested me for carrier status soon after they sent it to the same lab and ran the same test looking for the same mutation. I came back negative as a carrier. I don't think my insurance covered it or if they did it was only 50%. I still plan on getting my girls tested. Even if you are negative you could be a germline carrier (a % of your eggs are affected). What %? They don't know and I was thrown out a 7% figure.
-
Permalink Reply by Keith Van Houten on
-
This is the lab that Dr. Wong at Cincinnati is recommending for DNA testing, as of last week.
http://www.genetics.emory.edu/egl/test.php?test_id=163
The test is available at other places as well. Our original work was done at Athena Diagnostics. Go to www.athenadiagnostics.com and search for tests under DMD. Carrier testing is test number 103, "Partial DMD - del/dup only - females".
My insurance company covers carrier testing.
-
Permalink Reply by christine good on
-
Thanks Guys,
You all have great advice. I will pass this on to our MD.
Christine
-
-
Karen Barnett said:Christine,
I'm sorry about your son's recent diagnosis. Like you, we have no family history either.
My son's bloodwork was sent to Baylor when he was diagnosed. They sequenced the whole gene and detected his specific mutation - deletion of exon 51. When they tested me for carrier status soon after they sent it to the same lab and ran the same test looking for the same mutation. I came back negative as a carrier. I don't think my insurance covered it or if they did it was only 50%. I still plan on getting my girls tested. Even if you are negative you could be a germline carrier (a % of your eggs are affected). What %? They don't know and I was thrown out a 7% figure.
Karen,
My sons test said the same deletion, 51. Kian is 8 and still doing very well.
Christine
-
Permalink Reply by Danelle Dickerson on
-
My bloodwork was sent to Athena Diagnostics to test for carrier status. My insurance paid for it.
-
Permalink Reply by djamel fathi on
-
hello ,i have son he has dmd ,and he is first in my big fammily i don't belived my son have it or iam carrier ,after the doctor she say next appointement we did the test if you are carrier or no for future pregnancy, i did test free i don't pay nothing and i don't have insurance,the resulte returne they find it iam not carrier
-
Permalink Reply by Jerry Dallapè on
-
Christine, if you know your son's mutation, testing for carrier status is all the easier. I assume that he either had a muscle biopsy or a blood test. If it was the blood test, your test is essentially the same thing only they will now search just the part of your DNA surrounding exon 51. The test is less expensive and, if I remember correctly, comes back a bit more quickly as well.
-
Permalink Reply by Sara Savalli on
-
also you should have at this point already spoken to a genetic counselor, but if not mda has some and i do beleive most md clinics have one, they can also help get you set up for a carrier test, and can help others in your family get a test also, she told me she also can set you up locally to get a test done, she told me that i can get carrier testing and she also can help my sisters (they don't have kids yet), if they want to be tested for a carrier also, i beleive in cincinnati her name is martha but don't quote me on her name it has been a few years since we talked to her. i beleive that utah may still be the only one for a full sequencing, like stop codon wise , but carrier testing you can get there, but other places too.
© 2020 Created by PPMD.
Powered by
Badges | Report an Issue | Privacy Policy | Terms of Service
