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23 Screen

M

MomOfMiles

New member
Is there any place I can find what a standard 23 screen gene test looks for?

My son just 'passed' the 23 screen they did on him 3 weeks ago. He had a borderline (42) sweat test at the time.

I plan to press the issue at his 4 month checkup on Monday and ask for at least another sweat test at the CF clinic in Lexington.

I've printed out the Ambry info but I'm just curious what a typical 23 screen looks for.

Any help you can give me would be terrific! Thanks!
 
M

MomOfMiles

New member
Is there any place I can find what a standard 23 screen gene test looks for?

My son just 'passed' the 23 screen they did on him 3 weeks ago. He had a borderline (42) sweat test at the time.

I plan to press the issue at his 4 month checkup on Monday and ask for at least another sweat test at the CF clinic in Lexington.

I've printed out the Ambry info but I'm just curious what a typical 23 screen looks for.

Any help you can give me would be terrific! Thanks!
 
M

MomOfMiles

New member
Is there any place I can find what a standard 23 screen gene test looks for?

My son just 'passed' the 23 screen they did on him 3 weeks ago. He had a borderline (42) sweat test at the time.

I plan to press the issue at his 4 month checkup on Monday and ask for at least another sweat test at the CF clinic in Lexington.

I've printed out the Ambry info but I'm just curious what a typical 23 screen looks for.

Any help you can give me would be terrific! Thanks!
 
M

MomOfMiles

New member
Is there any place I can find what a standard 23 screen gene test looks for?

My son just 'passed' the 23 screen they did on him 3 weeks ago. He had a borderline (42) sweat test at the time.

I plan to press the issue at his 4 month checkup on Monday and ask for at least another sweat test at the CF clinic in Lexington.

I've printed out the Ambry info but I'm just curious what a typical 23 screen looks for.

Any help you can give me would be terrific! Thanks!
 
M

MomOfMiles

New member
Is there any place I can find what a standard 23 screen gene test looks for?
<br />
<br />My son just 'passed' the 23 screen they did on him 3 weeks ago. He had a borderline (42) sweat test at the time.
<br />
<br />I plan to press the issue at his 4 month checkup on Monday and ask for at least another sweat test at the CF clinic in Lexington.
<br />
<br />I've printed out the Ambry info but I'm just curious what a typical 23 screen looks for.
<br />
<br />Any help you can give me would be terrific! Thanks!
 
J

just1more

New member
Can't confirm, other than it is for the 23 most common mutations.

Unfortunately, the only list I can is the top 31 which I'm pasting below:

R553X
G551D
1507 del
F508 del
1717-1 G>A
G542X
R560T
R347P
W1282X
R334W
1078 Del T
3849 + 10KB C>T
R1162X
N1303K
3659 Del C
A455E
R117H
2183 AA>G
2789+5 G>A
1898 +1 G>A
621+1 G>T
711+1 G>T
G85E
S549N
S549R
V520F
Q493X
R347H
3849 +4 A>G
3905 INS T
Y122X
 
J

just1more

New member
Can't confirm, other than it is for the 23 most common mutations.

Unfortunately, the only list I can is the top 31 which I'm pasting below:

R553X
G551D
1507 del
F508 del
1717-1 G>A
G542X
R560T
R347P
W1282X
R334W
1078 Del T
3849 + 10KB C>T
R1162X
N1303K
3659 Del C
A455E
R117H
2183 AA>G
2789+5 G>A
1898 +1 G>A
621+1 G>T
711+1 G>T
G85E
S549N
S549R
V520F
Q493X
R347H
3849 +4 A>G
3905 INS T
Y122X
 
J

just1more

New member
Can't confirm, other than it is for the 23 most common mutations.

Unfortunately, the only list I can is the top 31 which I'm pasting below:

R553X
G551D
1507 del
F508 del
1717-1 G>A
G542X
R560T
R347P
W1282X
R334W
1078 Del T
3849 + 10KB C>T
R1162X
N1303K
3659 Del C
A455E
R117H
2183 AA>G
2789+5 G>A
1898 +1 G>A
621+1 G>T
711+1 G>T
G85E
S549N
S549R
V520F
Q493X
R347H
3849 +4 A>G
3905 INS T
Y122X
 
J

just1more

New member
Can't confirm, other than it is for the 23 most common mutations.

Unfortunately, the only list I can is the top 31 which I'm pasting below:

R553X
G551D
1507 del
F508 del
1717-1 G>A
G542X
R560T
R347P
W1282X
R334W
1078 Del T
3849 + 10KB C>T
R1162X
N1303K
3659 Del C
A455E
R117H
2183 AA>G
2789+5 G>A
1898 +1 G>A
621+1 G>T
711+1 G>T
G85E
S549N
S549R
V520F
Q493X
R347H
3849 +4 A>G
3905 INS T
Y122X
 
J

just1more

New member
Can't confirm, other than it is for the 23 most common mutations.
<br />
<br />Unfortunately, the only list I can is the top 31 which I'm pasting below:
<br />
<br />R553X
<br />G551D
<br />1507 del
<br />F508 del
<br />1717-1 G>A
<br />G542X
<br />R560T
<br />R347P
<br />W1282X
<br />R334W
<br />1078 Del T
<br />3849 + 10KB C>T
<br />R1162X
<br />N1303K
<br />3659 Del C
<br />A455E
<br />R117H
<br />2183 AA>G
<br />2789+5 G>A
<br />1898 +1 G>A
<br />621+1 G>T
<br />711+1 G>T
<br />G85E
<br />S549N
<br />S549R
<br />V520F
<br />Q493X
<br />R347H
<br />3849 +4 A>G
<br />3905 INS T
<br />Y122X
 
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