Confusing genetic test results

[mspeedey]

We recently got the results of my daughter's full gene sequence analysis and they're very confusing. On 7T, they identified R1162L and referred to it "as sequence change of unknown clinical significance. Therefore, the presence of a CF mutation not detected by this assay cannot be ruled out." Another gene M470V was also identified and described as a variant and "frequent among the general population."

Our pulmonary dr. basically said she doesn't think our daughter has CF (especially with a very normal sweat test) but they can't rule out a mutation 100%. Either way, they're going to continue with the treatment path we've been on: inhaled steroid, albuteral, pulmozyme, and daily chest PT.

I'm confused and would really like to know whether or not my daughter has atypical CF. If anyone could share their perspective, I would really appreciate it. Thank you!

 

[mspeedey]

We recently got the results of my daughter's full gene sequence analysis and they're very confusing. On 7T, they identified R1162L and referred to it "as sequence change of unknown clinical significance. Therefore, the presence of a CF mutation not detected by this assay cannot be ruled out." Another gene M470V was also identified and described as a variant and "frequent among the general population."

Our pulmonary dr. basically said she doesn't think our daughter has CF (especially with a very normal sweat test) but they can't rule out a mutation 100%. Either way, they're going to continue with the treatment path we've been on: inhaled steroid, albuteral, pulmozyme, and daily chest PT.

I'm confused and would really like to know whether or not my daughter has atypical CF. If anyone could share their perspective, I would really appreciate it. Thank you!

 

[mspeedey]

We recently got the results of my daughter's full gene sequence analysis and they're very confusing. On 7T, they identified R1162L and referred to it "as sequence change of unknown clinical significance. Therefore, the presence of a CF mutation not detected by this assay cannot be ruled out." Another gene M470V was also identified and described as a variant and "frequent among the general population."

Our pulmonary dr. basically said she doesn't think our daughter has CF (especially with a very normal sweat test) but they can't rule out a mutation 100%. Either way, they're going to continue with the treatment path we've been on: inhaled steroid, albuteral, pulmozyme, and daily chest PT.

I'm confused and would really like to know whether or not my daughter has atypical CF. If anyone could share their perspective, I would really appreciate it. Thank you!

 

[mspeedey]

We recently got the results of my daughter's full gene sequence analysis and they're very confusing. On 7T, they identified R1162L and referred to it "as sequence change of unknown clinical significance. Therefore, the presence of a CF mutation not detected by this assay cannot be ruled out." Another gene M470V was also identified and described as a variant and "frequent among the general population."

Our pulmonary dr. basically said she doesn't think our daughter has CF (especially with a very normal sweat test) but they can't rule out a mutation 100%. Either way, they're going to continue with the treatment path we've been on: inhaled steroid, albuteral, pulmozyme, and daily chest PT.

I'm confused and would really like to know whether or not my daughter has atypical CF. If anyone could share their perspective, I would really appreciate it. Thank you!

 

[mspeedey]

We recently got the results of my daughter's full gene sequence analysis and they're very confusing. On 7T, they identified R1162L and referred to it "as sequence change of unknown clinical significance. Therefore, the presence of a CF mutation not detected by this assay cannot be ruled out." Another gene M470V was also identified and described as a variant and "frequent among the general population."
<br />
<br />Our pulmonary dr. basically said she doesn't think our daughter has CF (especially with a very normal sweat test) but they can't rule out a mutation 100%. Either way, they're going to continue with the treatment path we've been on: inhaled steroid, albuteral, pulmozyme, and daily chest PT.
<br />
<br />I'm confused and would really like to know whether or not my daughter has atypical CF. If anyone could share their perspective, I would really appreciate it. Thank you!
<br />

 

[just1more]

By the tests results you have, no your daughter does not qualify as having CF.

That said, the Dr may choose to treat as if she does.

To translate your results:
There are about 1500 known mutations that are linked to CF.

The M470V is one of the rarer ones, which shows up paired with another mutation in some patients with atypical CF. However, as they noted it is also common among people w/o CF.

The other notation is that the found something 'not normal' elsewhere; but it is not one of the 1500+ known to cause CF and they don't know if has impact on anything.

Thus, you have one possible mild CF gene and some random mutation not related to CF. Clinically this would fit a diagnosis of possibly a CF carrier (based upon the M470V) but not CF itself.

Bear in mind, I'm not a Dr so please discuss your thoughts/concerns with your Dr, especially if you are unsure why they are continuing to treat as if she has CF.

 

[just1more]

By the tests results you have, no your daughter does not qualify as having CF.

That said, the Dr may choose to treat as if she does.

To translate your results:
There are about 1500 known mutations that are linked to CF.

The M470V is one of the rarer ones, which shows up paired with another mutation in some patients with atypical CF. However, as they noted it is also common among people w/o CF.

The other notation is that the found something 'not normal' elsewhere; but it is not one of the 1500+ known to cause CF and they don't know if has impact on anything.

Thus, you have one possible mild CF gene and some random mutation not related to CF. Clinically this would fit a diagnosis of possibly a CF carrier (based upon the M470V) but not CF itself.

Bear in mind, I'm not a Dr so please discuss your thoughts/concerns with your Dr, especially if you are unsure why they are continuing to treat as if she has CF.

 

[just1more]

By the tests results you have, no your daughter does not qualify as having CF.

That said, the Dr may choose to treat as if she does.

To translate your results:
There are about 1500 known mutations that are linked to CF.

The M470V is one of the rarer ones, which shows up paired with another mutation in some patients with atypical CF. However, as they noted it is also common among people w/o CF.

The other notation is that the found something 'not normal' elsewhere; but it is not one of the 1500+ known to cause CF and they don't know if has impact on anything.

Thus, you have one possible mild CF gene and some random mutation not related to CF. Clinically this would fit a diagnosis of possibly a CF carrier (based upon the M470V) but not CF itself.

Bear in mind, I'm not a Dr so please discuss your thoughts/concerns with your Dr, especially if you are unsure why they are continuing to treat as if she has CF.

 

[just1more]

By the tests results you have, no your daughter does not qualify as having CF.

That said, the Dr may choose to treat as if she does.

To translate your results:
There are about 1500 known mutations that are linked to CF.

The M470V is one of the rarer ones, which shows up paired with another mutation in some patients with atypical CF. However, as they noted it is also common among people w/o CF.

The other notation is that the found something 'not normal' elsewhere; but it is not one of the 1500+ known to cause CF and they don't know if has impact on anything.

Thus, you have one possible mild CF gene and some random mutation not related to CF. Clinically this would fit a diagnosis of possibly a CF carrier (based upon the M470V) but not CF itself.

Bear in mind, I'm not a Dr so please discuss your thoughts/concerns with your Dr, especially if you are unsure why they are continuing to treat as if she has CF.

 

[just1more]

By the tests results you have, no your daughter does not qualify as having CF.
<br />
<br />That said, the Dr may choose to treat as if she does.
<br />
<br />To translate your results:
<br />There are about 1500 known mutations that are linked to CF.
<br />
<br />The M470V is one of the rarer ones, which shows up paired with another mutation in some patients with atypical CF. However, as they noted it is also common among people w/o CF.
<br />
<br />The other notation is that the found something 'not normal' elsewhere; but it is not one of the 1500+ known to cause CF and they don't know if has impact on anything.
<br />
<br />Thus, you have one possible mild CF gene and some random mutation not related to CF. Clinically this would fit a diagnosis of possibly a CF carrier (based upon the M470V) but not CF itself.
<br />
<br />Bear in mind, I'm not a Dr so please discuss your thoughts/concerns with your Dr, especially if you are unsure why they are continuing to treat as if she has CF.

 

[mspeedey]

Tom,

Thank you for replying. Your explanation makes sense and is along the lines of what the drs. explained to me - it was really tough to grasp (your reply is so much clearer).

The drs. explained that there is little literature on M470V and even less literature on R1162L, which I guess is the point of my frustration. My daughter also has trouble gaining weight and is FTT which is something I'm curious to see is affected by either of these genes or is something else completely unrelated.

 

[mspeedey]

Tom,

Thank you for replying. Your explanation makes sense and is along the lines of what the drs. explained to me - it was really tough to grasp (your reply is so much clearer).

The drs. explained that there is little literature on M470V and even less literature on R1162L, which I guess is the point of my frustration. My daughter also has trouble gaining weight and is FTT which is something I'm curious to see is affected by either of these genes or is something else completely unrelated.

 

[mspeedey]

Tom,

Thank you for replying. Your explanation makes sense and is along the lines of what the drs. explained to me - it was really tough to grasp (your reply is so much clearer).

The drs. explained that there is little literature on M470V and even less literature on R1162L, which I guess is the point of my frustration. My daughter also has trouble gaining weight and is FTT which is something I'm curious to see is affected by either of these genes or is something else completely unrelated.

 

[mspeedey]

Tom,

Thank you for replying. Your explanation makes sense and is along the lines of what the drs. explained to me - it was really tough to grasp (your reply is so much clearer).

The drs. explained that there is little literature on M470V and even less literature on R1162L, which I guess is the point of my frustration. My daughter also has trouble gaining weight and is FTT which is something I'm curious to see is affected by either of these genes or is something else completely unrelated.

 

[mspeedey]

Tom,
<br />
<br />Thank you for replying. Your explanation makes sense and is along the lines of what the drs. explained to me - it was really tough to grasp (your reply is so much clearer).
<br />
<br />The drs. explained that there is little literature on M470V and even less literature on R1162L, which I guess is the point of my frustration. My daughter also has trouble gaining weight and is FTT which is something I'm curious to see is affected by either of these genes or is something else completely unrelated.

 

[Buckeye]

I don't know if you saw it or not, but there is a post that says Welcome Ambry Genetitcs at the top of the family section where you can leave a message for Steve from the genetics testing company. He would be able to explain the M470V and R1162L to you and whether they are known to cause disease when paired together.

 

[Buckeye]

I don't know if you saw it or not, but there is a post that says Welcome Ambry Genetitcs at the top of the family section where you can leave a message for Steve from the genetics testing company. He would be able to explain the M470V and R1162L to you and whether they are known to cause disease when paired together.

 

[Buckeye]

I don't know if you saw it or not, but there is a post that says Welcome Ambry Genetitcs at the top of the family section where you can leave a message for Steve from the genetics testing company. He would be able to explain the M470V and R1162L to you and whether they are known to cause disease when paired together.

 

[Buckeye]

I don't know if you saw it or not, but there is a post that says Welcome Ambry Genetitcs at the top of the family section where you can leave a message for Steve from the genetics testing company. He would be able to explain the M470V and R1162L to you and whether they are known to cause disease when paired together.

 

[Buckeye]

I don't know if you saw it or not, but there is a post that says Welcome Ambry Genetitcs at the top of the family section where you can leave a message for Steve from the genetics testing company. He would be able to explain the M470V and R1162L to you and whether they are known to cause disease when paired together.