question on mutations

[jabug8]

my daughter is in the process of multiple sweat test for a diagnosis and just had her blood work done today. I have a thread in newly diagnosed on everything that is going on with her. I guess Im mainly here to ask about gene mutation. from what I have read online about cystic fibrosis is the gene has to come from each parent.
first question: if the parent has the gene but no signs/diagnosis of CF is their gene mutated also?
second question: with CF if my daughter comes back with a mutated gene, that means she got the gene from us her parents so does that mean we got the gene from our parents??

my daughters uncle is going threw testing and all that too and his all came back negative. my daughters grandfather had blood work done and they told him he didn't have the gene. so if my husbands father doesn't have the gene does that mean that there is no way my husband has the gene to pass to our daughter?? I hope that these questions are not confusing. I am just really in the dark with everything. Her doctors don't want to answer anything until all test results are in. if anyone has any answers I would greatly appreciate a reply thank you -

 

[2005CFmom]

first question: if the parent has the gene but no signs/diagnosis of CF is their gene mutated also?
Every one has 2 Cftr genes, one from each parent. Both genes would have to be mutated in order for the person to have CF. That is why each parent can have one mutated CFTR gene and not have symptoms.

second question: with CF if my daughter comes back with a mutated gene, that means she got the gene from us her parents so does that mean we got the gene from our parents??
Yes, it would have been passed on to you from one of your parents.

my daughters uncle is going threw testing and all that too and his all came back negative. my daughters grandfather had blood work done and they told him he didn't have the gene. so if my husbands father doesn't have the gene does that mean that there is no way my husband has the gene to pass to our daughter?
He could have received the gene from his mother. Also, unless his father had full sequencing done there is a chance that he does have a mutated gene. There are over 1800 know mutations and it is common for doctors to test for less than 100 of them.

 

[jabug8]

So if my husbands dad doesn't have a mutation then my husband wouldn't have one which means our daughter couldn't have one correct? (Given my husbands mom doesn't either) thank you! I deff have a better understanding now

 

[2005CFmom]

But unless they had the full sequencing test done it is still possible that he has the gene. You need to find out how many mutations they tested him for. There are over 1800 mutations and most doctors only screen for about 100 of them. And also curious how you know his mother does not have the gene.

 

[jabug8]

Ok. I'm guessing my daughter was tested for 32? Her order said 32 n had something after it. She goes for a second sweat test Tuesday

 

[2005CFmom]

Yes, probably only tested for 32 then. The full sequencing test costs a couple thousand dollars to do so it is sometimes very difficult to get approved.

 

[jabug8]

?? great... We are having such a hard time. She has had 3 sweat test. First came back positive. Second n third were borderline so now we have to repeat yet another ?

 

[2005CFmom]

I was just reading your other post. This is crazy, she needs to be referred to a CF clinic to be evaluated. I think with 3 elevated sweat test...all over 60 which indicates CF, she should be approved for the full sequencing genetic test. CF ican be such a complicated diagnosis that she really needs to see an expert.

 

[jabug8]

The first was positive of 67 these last 2 were borderline of 43 (the other 60 something was a wrong person!!) But these last 2 were at the CF center! They are doing this last one told me if it comes back before the blood work, comes back borderline or higher again then we will see the center personally. Right now they won't see her until these test are done ? its so frustrating. I'm not very happy with the people and I'm pretty sure they are the only ones around ?