Guest guest Posted March 3, 2011 Report Share Posted March 3, 2011 I have been a member of the group for years. It is very informative. Im not sure I have ever posted. My daughter has BPES and is now 13. Ive been very interested in the discussions recently regarding POF, cryopreservation and infertility. Our geneticist here in CA has not tested our daughter for Type 1 or 2, stressing that the testing is less than accurate. Is there anyone who can respond to the accuracy of the testing, and does anyone live in CA who has had their child tested? Thanks, Amy Barr Sacramento, CA Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 3, 2011 Report Share Posted March 3, 2011 Hi Amy My daughter is 8 yrs old. She had the blood test to confirm BPES when she was about 4 years old. The test was done at the lab in Belgium which is the centre used in Europe for testing. The info I was given is that the test can confirm BPES but not the type of BPES. My daughter's test showed a complete deletion at FOXL2 and so I am assuming that she will have Type 1 BPES. But this is my assumption and not that of the geneticist. The reason the testing was done for my daughter is that she has problems with her palate and her maxillo-facial surgeon wanted to find out if she had any other genetic abnormality. The only genetic abnormality that was found was that she had a deletion at FOXL2 on chromosome 3, confirming BPES. The lab couldn't confirm what Type of BPES she had. Hope this is helpful. I am not a geneticist and can only relate what I have been told and read. Your best source of info is a geneticist. Regards Colchester (UK) > > I have been a member of the group for years. It is very informative. Im not sure I have ever posted. My daughter has BPES and is now 13. Ive been very interested in the discussions recently regarding POF, cryopreservation and infertility. > > Our geneticist here in CA has not tested our daughter for Type 1 or 2, stressing that the testing is less than accurate. > > Is there anyone who can respond to the accuracy of the testing, and does anyone live in CA who has had their child tested? > > Thanks, > > Amy Barr > Sacramento, CA > Quote Link to comment Share on other sites More sharing options...
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