Guest guest Posted December 9, 2002 Report Share Posted December 9, 2002 Gosh, Krystena, I wish I knew! Hoping someone steps in here. )O( mama to , 2yo, w/CF, and , 4yo, no CF I have DNA Well folks, I have Caden's DNA report. A bit confusing though. There were no known deletions detected. There were no novel variations detected. But. The results of the this test indicate the heterozygous presence of a previously described polymorphism, M470V (Kerem et al. 1990) on exon 10 of the CFTR gene. This polymorphism is not currently believed to be disease causing as reported in the cystic fibrosis mutation data base compiled by the Cystic Fibrosis Genetic Analysis Consortium but may contribute in unknown ways to the ultimate phenotype. If it is believed that this patient is affected with Cystic Fibrosis, consideration of complete sequencing of the CFTR gene to determine if alleles undetectable by this method are present. Alternatively CFTR levels, if available, may be useful for correlation with the clinical picture. Genetic counseling IS recommended for this patient and individual. ******************************************************** Now, what the heck does this mean??? I thought he already had the full sequencing done? Any information would be appreciated! Krystena s Caden 4 yrs GAII Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 9, 2002 Report Share Posted December 9, 2002 Gosh, Krystena, I wish I knew! Hoping someone steps in here. )O( mama to , 2yo, w/CF, and , 4yo, no CF I have DNA Well folks, I have Caden's DNA report. A bit confusing though. There were no known deletions detected. There were no novel variations detected. But. The results of the this test indicate the heterozygous presence of a previously described polymorphism, M470V (Kerem et al. 1990) on exon 10 of the CFTR gene. This polymorphism is not currently believed to be disease causing as reported in the cystic fibrosis mutation data base compiled by the Cystic Fibrosis Genetic Analysis Consortium but may contribute in unknown ways to the ultimate phenotype. If it is believed that this patient is affected with Cystic Fibrosis, consideration of complete sequencing of the CFTR gene to determine if alleles undetectable by this method are present. Alternatively CFTR levels, if available, may be useful for correlation with the clinical picture. Genetic counseling IS recommended for this patient and individual. ******************************************************** Now, what the heck does this mean??? I thought he already had the full sequencing done? Any information would be appreciated! Krystena s Caden 4 yrs GAII Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 9, 2002 Report Share Posted December 9, 2002 Wow! I am so glad that you are making progress, but I am also so disappointed that you have had such a struggle getting support from doctors. I feel terrible that you had to figure this out on your own. I can't even imagine how you ust feel. Please continue to keep us all posted. Give Caden a big hug from me. Gale Quote Link to comment Share on other sites More sharing options...
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