Guest guest Posted October 7, 2008 Report Share Posted October 7, 2008 At what age can the genetic testing be done to verify what type is present? Has anyone had the genetic testing done? Should this be an issue, should I be worried? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 7, 2008 Report Share Posted October 7, 2008 With my son it was just some blood tests. and waiting for the results. And then she told me at the next appointment. She also issured me that there was nothing to worrie about. He was 2. And I would've never even had any concern if it wasn't for all the people who looked at my baby and were always commenting about his eyes. So finally after it started to bother me. I asked his pediatrician...who had thought he looked like his father or myself...and after i brought pics for her to really look at. She then had some concern. So back to were I started this...it was just some blood dna testing. With my son it has something to do with his 43 chromosome. INherited from me according to the geneticist. From: huffmana29 <huffmana29@...>Subject: blepharophimosis Type I questionblepharophimosis Date: Tuesday, October 7, 2008, 8:23 AM At what age can the genetic testing be done to verify what type is present? Has anyone had the genetic testing done?Should this be an issue, should I be worried? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 8, 2008 Report Share Posted October 8, 2008 My daughter was tested at age 11, tested again at 13. Onset of puberty will be my answer. The test we had involved her blood been taken and an ultrasound (sonogram) been done. Test results takes ages to come back (3 months) our took over a year. Hope this helps Joyce (London England) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 11, 2008 Report Share Posted October 11, 2008 Hello, It is my understanding after talking with a genetic counselor in Madison, Wisconsin, USA; that the genetic testing for BLEP currently is done in Europe or out of the United States, at least. The genetic counselor was willing to battle the insurance company for testing to be done but at this point my daughter, who is 19 and the only person in our family with BLEP, has decided that she has enough information about and is not pursuing testing. We have been working with our general practitioner, eye doctor, an ocuplastic surgeon, a gynecologist, a genetic counselor and will be scheduling an appointment with a fertility specialist in the near future. My daughter had eyelid surgeries when she was about 2 and we lived in the Houston, Texas area and just recently had a bilateral ectropion procedure to correct her lower eyelid structure. All procedures have been very successful and while she still has a unique look to her eyes, she continues to move forward in her full life as a happy and busy college student. From: huffmana29 <huffmana29@...>Subject: blepharophimosis Type I questionblepharophimosis Date: Tuesday, October 7, 2008, 8:23 AM At what age can the genetic testing be done to verify what type is present? Has anyone had the genetic testing done?Should this be an issue, should I be worried? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 14, 2008 Report Share Posted October 14, 2008 Hi, My daughter Leah was tested for Bleph I/II about a year ago. We sent the samples off to Europe, and waited almost four months for results. When they finally came back, they were inconclusive. Apparently, the location of the gene anomaly was not in a location that allowed them to say with accuracy whether she had type I or II bleph. I guess we will have to wait until Leah is older before we know conclusively. Micah From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of lisa mennes Sent: Sunday, October 12, 2008 4:41 AM blepharophimosis Subject: Re: blepharophimosis Type I question Hello, It is my understanding after talking with a genetic counselor in Madison, Wisconsin, USA; that the genetic testing for BLEP currently is done in Europe or out of the United States, at least. The genetic counselor was willing to battle the insurance company for testing to be done but at this point my daughter, who is 19 and the only person in our family with BLEP, has decided that she has enough information about and is not pursuing testing. We have been working with our general practitioner, eye doctor, an ocuplastic surgeon, a gynecologist, a genetic counselor and will be scheduling an appointment with a fertility specialist in the near future. My daughter had eyelid surgeries when she was about 2 and we lived in the Houston, Texas area and just recently had a bilateral ectropion procedure to correct her lower eyelid structure. All procedures have been very successful and while she still has a unique look to her eyes, she continues to move forward in her full life as a happy and busy college student. --- On Tue, 10/7/08, huffmana29 <huffmana29@...> wrote: From: huffmana29 <huffmana29@...> Subject: blepharophimosis Type I question blepharophimosis Date: Tuesday, October 7, 2008, 8:23 AM At what age can the genetic testing be done to verify what type is present? Has anyone had the genetic testing done? Should this be an issue, should I be worried? Quote Link to comment Share on other sites More sharing options...
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