For the Ambry guy: mutation mystery

[bmombtoo]

<span style=" font-size: medium;">Hi,<br>
My son Joshua is 12, and was diagnosed officially by nasal
differential potential testing on 09/17/06. His sweat chloride at
Hopkins was a 15;  he was also positive for CF on a different
type of sweat chloride test that stimulates sweat from a alternate
channel. We had his first clinic appointment on Tuesday and the
doctor said she called the lab (Quest) and they were almost
finished his mutation panel. They found no mutation match and only
had one more group to go through (I think she said of 27 groups).
The basic mutation screen was done at Hopkins. She said there is a
very small number of families  across the US that test
positive for CF, have symptoms, but show no genetic mutation.
Further they suspect that a gene that has yet to be identified is
most likely involved. Any thoughts?<br>
<span style=" font-size: medium;">His primary symptoms are asthma
and sinus infections, and some bronchitis. Had sinus  surgery
in May that revealed polyps.

 

[bmombtoo]

<span style=" font-size: medium;">Hi,<br>
My son Joshua is 12, and was diagnosed officially by nasal
differential potential testing on 09/17/06. His sweat chloride at
Hopkins was a 15;  he was also positive for CF on a different
type of sweat chloride test that stimulates sweat from a alternate
channel. We had his first clinic appointment on Tuesday and the
doctor said she called the lab (Quest) and they were almost
finished his mutation panel. They found no mutation match and only
had one more group to go through (I think she said of 27 groups).
The basic mutation screen was done at Hopkins. She said there is a
very small number of families  across the US that test
positive for CF, have symptoms, but show no genetic mutation.
Further they suspect that a gene that has yet to be identified is
most likely involved. Any thoughts?<br>
<span style=" font-size: medium;">His primary symptoms are asthma
and sinus infections, and some bronchitis. Had sinus  surgery
in May that revealed polyps.

 

[bmombtoo]

<span style=" font-size: medium;">Hi,<br>
My son Joshua is 12, and was diagnosed officially by nasal
differential potential testing on 09/17/06. His sweat chloride at
Hopkins was a 15;  he was also positive for CF on a different
type of sweat chloride test that stimulates sweat from a alternate
channel. We had his first clinic appointment on Tuesday and the
doctor said she called the lab (Quest) and they were almost
finished his mutation panel. They found no mutation match and only
had one more group to go through (I think she said of 27 groups).
The basic mutation screen was done at Hopkins. She said there is a
very small number of families  across the US that test
positive for CF, have symptoms, but show no genetic mutation.
Further they suspect that a gene that has yet to be identified is
most likely involved. Any thoughts?<br>
<span style=" font-size: medium;">His primary symptoms are asthma
and sinus infections, and some bronchitis. Had sinus  surgery
in May that revealed polyps.

 

[imondeck]

Interesting, as my son (who is 12) has been diagnosed with CF by his pulmo. He had 2 positive sweat tests, his DNA tests (first Genzyme, than Ambry) revealed no known mutations. His doctor is not concerned with finding his mutations at this point. He is below 5% for weight, has had moderate sleep apnea (obstructive and central) which he had a T/A for. He also was born with hypospadias, which I recall reading an article that related the urology problems with some CF males. Other than those symptoms, he has been great!

 

[imondeck]

Interesting, as my son (who is 12) has been diagnosed with CF by his pulmo. He had 2 positive sweat tests, his DNA tests (first Genzyme, than Ambry) revealed no known mutations. His doctor is not concerned with finding his mutations at this point. He is below 5% for weight, has had moderate sleep apnea (obstructive and central) which he had a T/A for. He also was born with hypospadias, which I recall reading an article that related the urology problems with some CF males. Other than those symptoms, he has been great!

 

[imondeck]

Interesting, as my son (who is 12) has been diagnosed with CF by his pulmo. He had 2 positive sweat tests, his DNA tests (first Genzyme, than Ambry) revealed no known mutations. His doctor is not concerned with finding his mutations at this point. He is below 5% for weight, has had moderate sleep apnea (obstructive and central) which he had a T/A for. He also was born with hypospadias, which I recall reading an article that related the urology problems with some CF males. Other than those symptoms, he has been great!

 

[bmombtoo]

Hi Guys,<br>
I moved this to the Ambry section. Thanks!!!!

 

[bmombtoo]

Hi Guys,<br>
I moved this to the Ambry section. Thanks!!!!

 

[bmombtoo]

Hi Guys,<br>
I moved this to the Ambry section. Thanks!!!!

 

[StevenKeiles]

Sandra, and interested others,

Since there is no test that detects 100% of mutations, there will be a small percentage of CF where zero or only one mutation is found. However, this is more with typical CF. For atypical, it is likely that other genes are involved and that is why CF is often negative or only one mutation.

I an tell you when there is a classic CF presentation with a very high sweat test it is very unusual for us not to find two mutations.

Dolline check the reply in the other section as well.

thanks,

Steve

 

[StevenKeiles]

Sandra, and interested others,

Since there is no test that detects 100% of mutations, there will be a small percentage of CF where zero or only one mutation is found. However, this is more with typical CF. For atypical, it is likely that other genes are involved and that is why CF is often negative or only one mutation.

I an tell you when there is a classic CF presentation with a very high sweat test it is very unusual for us not to find two mutations.

Dolline check the reply in the other section as well.

thanks,

Steve

 

[StevenKeiles]

Sandra, and interested others,

Since there is no test that detects 100% of mutations, there will be a small percentage of CF where zero or only one mutation is found. However, this is more with typical CF. For atypical, it is likely that other genes are involved and that is why CF is often negative or only one mutation.

I an tell you when there is a classic CF presentation with a very high sweat test it is very unusual for us not to find two mutations.

Dolline check the reply in the other section as well.

thanks,

Steve