Guest guest Posted February 24, 2004 Report Share Posted February 24, 2004 Hi, I just got off the phone with the genetic counselor and have received some news. She spoke with Genzyme and has gotten a preliminary result for the CF testing on the baby. They say that, thus far he is definitely at least a carrier, but they can only find one mutation. They will double check the result against 's result when they finish her test and see if he has the less common mutation that also carries. But so far they think he might only be a carrier. We are not getting our hopes up just yet though since, the comparison has not been done, but at least we have now seen some progress toward an answer. We are hopeful though, since the second mutation should be found with the test that they are using............. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 24, 2004 Report Share Posted February 24, 2004 Dear , I will be holding you & yours in my special thoughts & also have many friends also going me. Take care & this precious wee one will be fine , either way LOVE & HUGS, grandmoMBEv Prliminary amnio results!!!!! Hi, I just got off the phone with the genetic counselor and have received some news. She spoke with Genzyme and has gotten a preliminary result for the CF testing on the baby. They say that, thus far he is definitely at least a carrier, but they can only find one mutation. They will double check the result against 's result when they finish her test and see if he has the less common mutation that also carries. But so far they think he might only be a carrier. We are not getting our hopes up just yet though since, the comparison has not been done, but at least we have now seen some progress toward an answer. We are hopeful though, since the second mutation should be found with the test that they are using............. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 24, 2004 Report Share Posted February 24, 2004 Keeping you all in my prayers. Take care, , mommy of 4, wcf Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 24, 2004 Report Share Posted February 24, 2004 , Hopes and special thoughts to you. Waiting is always difficult, but things will be ok no matter what. Love, Jill Prliminary amnio results!!!!! Hi, I just got off the phone with the genetic counselor and have received some news. She spoke with Genzyme and has gotten a preliminary result for the CF testing on the baby. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 24, 2004 Report Share Posted February 24, 2004 Hi , We'll keep hoping with you. Let us know when you can! love, M Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 24, 2004 Report Share Posted February 24, 2004 We are hopeful though, since the second mutation should be found with the test that they are using............. > > > Genzyme's test only looks for 78 mutations. It did find the most common of our son's mutations but it wasn't until we had the Ambry test done that it found the second rare mutation clinching the diagnosis. jan Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 24, 2004 Report Share Posted February 24, 2004 Hi Good news about the amnio, hope all goes well. Steph - mum to 2 3/4 with CF ANDREA FITTING wrote: Hi, I just got off the phone with the genetic counselor and have received some news. She spoke with Genzyme and has gotten a preliminary result for the CF testing on the baby. They say that, thus far he is definitely at least a carrier, but they can only find one mutation. They will double check the result against 's result when they finish her test and see if he has the less common mutation that also carries. But so far they think he might only be a carrier. We are not getting our hopes up just yet though since, the comparison has not been done, but at least we have now seen some progress toward an answer. We are hopeful though, since the second mutation should be found with the test that they are using............. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 25, 2004 Report Share Posted February 25, 2004 Jan, The current one tests for 85, and they found both of 's when they were only testing for 70. So, they should be able to find The second one if it is there......we hope. Message ----- To: cfparents <mailto:cfparents > Sent: Tuesday, February 24, 2004 10:15 PM Subject: Re: Prliminary amnio results!!!!! We are hopeful though, since the second mutation should be found with the test that they are using............. > > > Genzyme's test only looks for 78 mutations. It did find the most common of our son's mutations but it wasn't until we had the Ambry test done that it found the second rare mutation clinching the diagnosis. jan ------------------------------------------- The opinions and information exchanged on this list should IN NO WAY be construed as medical advice. PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. ------------------------------------ ------------------------------------------------------------------------------ Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.