HI,I have some question, I have a 5 yrs old girl with CF, now the question is, that I have a baby girl who is 9 mos , I took her for her 9 mos old check up and her weight is very low so is her height are way below the percentage, so her primary dr would like to do sweat test on her even though her genetic testing came back negative ( one was anmino test which it was done during pregnancy , and it showed that she carries one gene which makes her a carrier, then she have had pku newborn screen and it also came back negative) , does that happen often? does GEnetic testing can be correct or incorrect answer. Even though my daughter with Cf her two genes can be easily find in genetic testing. my 9 mos only have one, could this 2nd genes possible hidden ? I would like to hear anyone of you have heard of this similar situation. Thanks
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Genetic Testing & Sweat Test
- Thread starter anonymous
- Start date
Unprofessionally I would say NO!If your daughter with CF had her mutations identified by genetic screen and her sister had the same screen done but yielded only one mutation, that is the final answer. Unless one of the parents has CF and has a rare (unscreenable mutation) that was given to the baby. Or (please dont get mad) you have different parents.If both parents are only carriers and they are the same for both children and the same genetic test was run for both, then NO! the baby cannot have CF.Don PDad to Madison and a carrier of DF508
I have to agree with Don here. Unless one of you has (undiagnosed) CF, you should only have to look for the same 2 mutations that your older child has. (excepting, of course that your 2nd child has a different father) Otherwise it wouldn't make sense. There is also the possibility of a spontaneous mutation but that would be something like a one in a few million chance. You could do the sweat test to satisfy the doctor (it's feally not that big of a deal since it is non-invasive) but it really shouldn't come out positive if she has been checked for the same mutations as her sister. Some people are "symptomatic carriers". This means that they have some symptoms without having 2 mutations. They are often treated in a similar manner to people with CF. Good luck to you and your family and i hope that you can get this figured out.Andrea
My one month old has had two PKU screens come back negative but her genetic test shows two abnormal genes. She had two blood transfusions before the genetic test was done. I understand that the screens are not a diagnostic test but from my research I have read that the screens are known for giving false positives, not necessarily false negatives. The doctors are saying that she is too young to have the sweat test and have recommended that my husband and I be tested to see if we are carriers. Could the blood transfusion effect the results of the genetic test?<img src="i/expressions/face-icon-small-confused.gif" border="0">