Guest guest Posted October 11, 2006 Report Share Posted October 11, 2006 lisa i think yuod go to bailor or soemwhere coz they r doing the gene testing soemone can correct me f im wrong LOL coz im inaus > > I posted earlier about my husband and I being tested for the gene that > causes CHARGE. Our daughters test was positive. Our genetist doesn't > think we need to be tested and has ensured us that the test would be > negative. Which puts at a risk rate of 1%. Anyhow, he says he himself > cannot do the testing on adults because he works only in pediactrics. > So, my husband and I would still like that extra reassurace and would > like to be tested. Even if it yields no answers and gives no > guarantees. Since he cannot do it- where do I go from here? Would our > primary care doctor do it? I would like to know if any of you know > where we should call to start the testing process. I would also like > to know if any of you parents actually tested postive for the gene > change found in your child. > > Thanks so much in Advance! > > , Mama to Zoey(4-25~7-31- 2006) CHargE > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 11, 2006 Report Share Posted October 11, 2006 LIsa, My son tested positive for the gene and I tested negative. My husband wasn't tested but they said he would test negative becuase to have the gene mutation that has you would have physical charactaristics of CHARGE. I believe that GENEcare is the lab that performed the test but will email you off line when I am certain that the name is correct. We went to see a fetal genetic counselor at a perinatology office and she performed the testing. Not all perinatology offices have a prenatal genetic counselor in their office so you want to call around to find one. Tis is where you want to plug in at anyway if you an dyour husband are trying to have another baby. Additionally , I am 5 months pregnant now and they were able to test the baby for CHARGE syndrome via a CVS sample. In our case since tested positive for the gene they were looking for the exact mutation found in because if the baby that I am carrying was the 1% that had CHARGE the mutation would look exactly the same. And the baby did not have a mutation in the CHD7 gene! Additionally, I had 2 healthy babies before . I understand your concerns and you have every right to be concerned, but really I am sure that everything will be okay. Best Wishes to you and your husband, > > lisa i think yuod go to bailor or soemwhere coz they r doing the gene > testing soemone can correct me f im wrong LOL coz im inaus > > On 11/10/06, kalhayd <kalhayd@... <kalhayd%40yahoo.com>> wrote: > > > > I posted earlier about my husband and I being tested for the gene that > > causes CHARGE. Our daughters test was positive. Our genetist doesn't > > think we need to be tested and has ensured us that the test would be > > negative. Which puts at a risk rate of 1%. Anyhow, he says he himself > > cannot do the testing on adults because he works only in pediactrics. > > So, my husband and I would still like that extra reassurace and would > > like to be tested. Even if it yields no answers and gives no > > guarantees. Since he cannot do it- where do I go from here? Would our > > primary care doctor do it? I would like to know if any of you know > > where we should call to start the testing process. I would also like > > to know if any of you parents actually tested postive for the gene > > change found in your child. > > > > Thanks so much in Advance! > > > > , Mama to Zoey(4-25~7-31- 2006) CHargE > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 11, 2006 Report Share Posted October 11, 2006 , Meg Hefner, genetic counselor here. Testing you probably wouldn't give you useful information. The various labs doing testing (both research and clinical) have now looked at lots and lots of parents, including some with one or two " features " of CHARGE (hearing loss, heart defect...). To the best of my knowledge, none of the parents has tested postive for a mutation. That does NOT get rid of the 1% recurrence risk. Testing a parent looks for the CHD7 mutation in blood cells. What is important is not the blood, but whether or not there are other eggs or sperm which carry the mutation. That's why prenatal diagnosis (DNA testing of the CHD7 mutation the child carries) should be offered to everyone with a child with an identified CHD7 mutation. That said, it's no where near as expensive to test other family members once the child with CHARGE has been found to have a CHD7 mutation. To test the person with CHARGE, the entire gene needs to be sequenced. That is a HUGE undertaking, and the cost is $3-4,000. IF a CHD7 mutation is found, testing of other family members (inlcuding prenatal) only needs to look for that particular change in the CHD7 gene. Testing of parents is usually about $3-400. The lab would need the results of the childs' test to know what they are looking for. It maybe best to have family testing done in the same lab as the orginal testing. Prenatal testing is more expensive, mostly because it involves CVS or amnio and ultrasound... more doctor fees, etc. Prenatal testign should be covered by insurance, as 1% is considered a significant risk. I hope that helps. Meg Meg Hefner MS Genetic Counselor St. Loius MO > > I posted earlier about my husband and I being tested for the gene that > causes CHARGE. Our daughters test was positive. Our genetist doesn't > think we need to be tested and has ensured us that the test would be > negative. Which puts at a risk rate of 1%. Anyhow, he says he himself > cannot do the testing on adults because he works only in pediactrics. > So, my husband and I would still like that extra reassurace and would > like to be tested. Even if it yields no answers and gives no > guarantees. Since he cannot do it- where do I go from here? Would our > primary care doctor do it? I would like to know if any of you know > where we should call to start the testing process. I would also like > to know if any of you parents actually tested postive for the gene > change found in your child. > > Thanks so much in Advance! > > , Mama to Zoey(4-25~7-31- 2006) CHargE > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 11, 2006 Report Share Posted October 11, 2006 OK, now I am a tad worried. 1% percent is considered a significant risk? I took that number and instantly speculated that it meant the risk were low. Thanks, , Mama to Zoey(4-25/7-31-2006) CHargE Meg Hefner wrote: , Meg Hefner, genetic counselor here. Testing you probably wouldn't give you useful information. The various labs doing testing (both research and clinical) have now looked at lots and lots of parents, including some with one or two " features " of CHARGE (hearing loss, heart defect...). To the best of my knowledge, none of the parents has tested postive for a mutation. That does NOT get rid of the 1% recurrence risk. Testing a parent looks for the CHD7 mutation in blood cells. What is important is not the blood, but whether or not there are other eggs or sperm which carry the mutation. That's why prenatal diagnosis (DNA testing of the CHD7 mutation the child carries) should be offered to everyone with a child with an identified CHD7 mutation. That said, it's no where near as expensive to test other family members once the child with CHARGE has been found to have a CHD7 mutation. To test the person with CHARGE, the entire gene needs to be sequenced. That is a HUGE undertaking, and the cost is $3-4,000. IF a CHD7 mutation is found, testing of other family members (inlcuding prenatal) only needs to look for that particular change in the CHD7 gene. Testing of parents is usually about $3-400. The lab would need the results of the childs' test to know what they are looking for. It maybe best to have family testing done in the same lab as the orginal testing. Prenatal testing is more expensive, mostly because it involves CVS or amnio and ultrasound... more doctor fees, etc. Prenatal testign should be covered by insurance, as 1% is considered a significant risk. I hope that helps. Meg Meg Hefner MS Genetic Counselor St. Loius MO > > I posted earlier about my husband and I being tested for the gene that > causes CHARGE. Our daughters test was positive. Our genetist doesn't > think we need to be tested and has ensured us that the test would be > negative. Which puts at a risk rate of 1%. Anyhow, he says he himself > cannot do the testing on adults because he works only in pediactrics. > So, my husband and I would still like that extra reassurace and would > like to be tested. Even if it yields no answers and gives no > guarantees. Since he cannot do it- where do I go from here? Would our > primary care doctor do it? I would like to know if any of you know > where we should call to start the testing process. I would also like > to know if any of you parents actually tested postive for the gene > change found in your child. > > Thanks so much in Advance! > > , Mama to Zoey(4-25~7-31- 2006) CHargE > --------------------------------- All-new Yahoo! Mail - Fire up a more powerful email and get things done faster. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 11, 2006 Report Share Posted October 11, 2006 Look at it this way: for the general population, the incidence of CHARGE is 1 out of 9-11,000 (depending on the source). So out of approximately 10,000 births, there will be one baby with CHARGE. Once you have had a child with CHARGE, then it goes to 1%, which is the same thing as saying 1 out of 100 births will be a baby with CHARGE. 1% isn't a huge risk, but it isn't negligible either. (mom to Evan, 15 months) Karges wrote: OK, now I am a tad worried. 1% percent is considered a significant risk? I took that number and instantly speculated that it meant the risk were low. Thanks, , Mama to Zoey(4-25/7-31-2006) CHargE Meg Hefner wrote: , Meg Hefner, genetic counselor here. Testing you probably wouldn't give you useful information. The various labs doing testing (both research and clinical) have now looked at lots and lots of parents, including some with one or two " features " of CHARGE (hearing loss, heart defect...). To the best of my knowledge, none of the parents has tested postive for a mutation. That does NOT get rid of the 1% recurrence risk. Testing a parent looks for the CHD7 mutation in blood cells. What is important is not the blood, but whether or not there are other eggs or sperm which carry the mutation. That's why prenatal diagnosis (DNA testing of the CHD7 mutation the child carries) should be offered to everyone with a child with an identified CHD7 mutation. That said, it's no where near as expensive to test other family members once the child with CHARGE has been found to have a CHD7 mutation. To test the person with CHARGE, the entire gene needs to be sequenced. That is a HUGE undertaking, and the cost is $3-4,000. IF a CHD7 mutation is found, testing of other family members (inlcuding prenatal) only needs to look for that particular change in the CHD7 gene. Testing of parents is usually about $3-400. The lab would need the results of the childs' test to know what they are looking for. It maybe best to have family testing done in the same lab as the orginal testing. Prenatal testing is more expensive, mostly because it involves CVS or amnio and ultrasound... more doctor fees, etc. Prenatal testign should be covered by insurance, as 1% is considered a significant risk. I hope that helps. Meg Meg Hefner MS Genetic Counselor St. Loius MO > > I posted earlier about my husband and I being tested for the gene that > causes CHARGE. Our daughters test was positive. Our genetist doesn't > think we need to be tested and has ensured us that the test would be > negative. Which puts at a risk rate of 1%. Anyhow, he says he himself > cannot do the testing on adults because he works only in pediactrics. > So, my husband and I would still like that extra reassurace and would > like to be tested. Even if it yields no answers and gives no > guarantees. Since he cannot do it- where do I go from here? Would our > primary care doctor do it? I would like to know if any of you know > where we should call to start the testing process. I would also like > to know if any of you parents actually tested postive for the gene > change found in your child. > > Thanks so much in Advance! > > , Mama to Zoey(4-25~7-31- 2006) CHargE > --------------------------------- All-new Yahoo! Mail - Fire up a more powerful email and get things done faster. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 26, 2010 Report Share Posted July 26, 2010 Got it Kate. hugs nne To the world you might be one person, but to one person you just might be the world""May the Lord Bless you and keep you,May the Lord Make his face shine upon you, and give you Peace...Forever"Breast Cancer Patients Soul Mates for Lifehttp://breastcancerpatientssoulmatesforlife.bravehost.com/ Anxiety Depression and Breast Cancerhttp://health.groups.yahoo.com/group/AnxietyDepressionandBreastCancerAngel Feather Loomerwww.angelfeatherloomer.blogspot.comThe Cancer Clubwww.cancerclub.com -----Original Message-----From: katelloydkidz@...Sent: Mon, 26 Jul 2010 14:59:41 +0000 (GMT)To: mserslife Subject: testing Send any screenshot to your friends in seconds... Works in all emails, instant messengers, blogs, forums and social networks. Try IM ToolPack at www.imtoolpack.com for FREE Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 6, 2011 Report Share Posted July 6, 2011 Just a test post - Yahoo ate my last two posts! Quote Link to comment Share on other sites More sharing options...
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