Test results (anyone tell me what they mean please)

M

mom2my3kids

New member
Well we received the official test results for my son Xander who is 9 weeks old. They told me over the phone that he does have CF and set our first clinic date for Dec. 1st. They did try and explain the results but I guess it would easier in person. They would send them to me for my records. Well they make absolutely no sense so I thought you al1 could help figure them out...

They say the following: Two alterations, both predicted to be deleterious:
1)A heterozygous deletion of CTT at nucleotide 1653-1655 resulting in an in-frame deletion at codon 508 in exon 10 of the CFTR gene (1653-1655 del CTT, F508del)

2) The 5/7T and 10TG/12TG intron 8 variants were detected.

Two changes from the "normal" or wild type of the CFTR gene were detected inthis sample.

Anyone know what this means exactly?

Thanks!
 
M

mom2my3kids

New member
Well we received the official test results for my son Xander who is 9 weeks old. They told me over the phone that he does have CF and set our first clinic date for Dec. 1st. They did try and explain the results but I guess it would easier in person. They would send them to me for my records. Well they make absolutely no sense so I thought you al1 could help figure them out...

They say the following: Two alterations, both predicted to be deleterious:
1)A heterozygous deletion of CTT at nucleotide 1653-1655 resulting in an in-frame deletion at codon 508 in exon 10 of the CFTR gene (1653-1655 del CTT, F508del)

2) The 5/7T and 10TG/12TG intron 8 variants were detected.

Two changes from the "normal" or wild type of the CFTR gene were detected inthis sample.

Anyone know what this means exactly?

Thanks!
 
M

mom2my3kids

New member
Well we received the official test results for my son Xander who is 9 weeks old. They told me over the phone that he does have CF and set our first clinic date for Dec. 1st. They did try and explain the results but I guess it would easier in person. They would send them to me for my records. Well they make absolutely no sense so I thought you al1 could help figure them out...

They say the following: Two alterations, both predicted to be deleterious:
1)A heterozygous deletion of CTT at nucleotide 1653-1655 resulting in an in-frame deletion at codon 508 in exon 10 of the CFTR gene (1653-1655 del CTT, F508del)

2) The 5/7T and 10TG/12TG intron 8 variants were detected.

Two changes from the "normal" or wild type of the CFTR gene were detected inthis sample.

Anyone know what this means exactly?

Thanks!
 
M

mom2my3kids

New member
Well we received the official test results for my son Xander who is 9 weeks old. They told me over the phone that he does have CF and set our first clinic date for Dec. 1st. They did try and explain the results but I guess it would easier in person. They would send them to me for my records. Well they make absolutely no sense so I thought you al1 could help figure them out...

They say the following: Two alterations, both predicted to be deleterious:
1)A heterozygous deletion of CTT at nucleotide 1653-1655 resulting in an in-frame deletion at codon 508 in exon 10 of the CFTR gene (1653-1655 del CTT, F508del)

2) The 5/7T and 10TG/12TG intron 8 variants were detected.

Two changes from the "normal" or wild type of the CFTR gene were detected inthis sample.

Anyone know what this means exactly?

Thanks!
 
M

mom2my3kids

New member
Well we received the official test results for my son Xander who is 9 weeks old. They told me over the phone that he does have CF and set our first clinic date for Dec. 1st. They did try and explain the results but I guess it would easier in person. They would send them to me for my records. Well they make absolutely no sense so I thought you al1 could help figure them out...
<br />
<br />They say the following: Two alterations, both predicted to be deleterious:
<br />1)A heterozygous deletion of CTT at nucleotide 1653-1655 resulting in an in-frame deletion at codon 508 in exon 10 of the CFTR gene (1653-1655 del CTT, F508del)
<br />
<br />2) The 5/7T and 10TG/12TG intron 8 variants were detected.
<br />
<br />Two changes from the "normal" or wild type of the CFTR gene were detected inthis sample.
<br />
<br />Anyone know what this means exactly?
<br />
<br />Thanks!
 
M

Mommafirst

Guest
HI Jana -

I know its confusing and overwhelming and I'm no expert. . .. but what I see is that your son has CF with the df508 gene and a 5T variant. Together these work together to impact the function of the CFTR.

I don't know what kind of information this combination provides. Pretty much just confirms that he has CF.
 
M

Mommafirst

Guest
HI Jana -

I know its confusing and overwhelming and I'm no expert. . .. but what I see is that your son has CF with the df508 gene and a 5T variant. Together these work together to impact the function of the CFTR.

I don't know what kind of information this combination provides. Pretty much just confirms that he has CF.
 
M

Mommafirst

Guest
HI Jana -

I know its confusing and overwhelming and I'm no expert. . .. but what I see is that your son has CF with the df508 gene and a 5T variant. Together these work together to impact the function of the CFTR.

I don't know what kind of information this combination provides. Pretty much just confirms that he has CF.
 
M

Mommafirst

Guest
HI Jana -

I know its confusing and overwhelming and I'm no expert. . .. but what I see is that your son has CF with the df508 gene and a 5T variant. Together these work together to impact the function of the CFTR.

I don't know what kind of information this combination provides. Pretty much just confirms that he has CF.
 
M

Mommafirst

Guest
HI Jana -
<br />
<br />I know its confusing and overwhelming and I'm no expert. . .. but what I see is that your son has CF with the df508 gene and a 5T variant. Together these work together to impact the function of the CFTR.
<br />
<br />I don't know what kind of information this combination provides. Pretty much just confirms that he has CF.
 
H

hopesiris

Guest
Hi,

If I understand correctly there is DF508 and 5T/TG12. That is what I have. I know of 2 other adults with this combination but at least one has a polymorphism M470 (I think) that I do not have. From what I've read that can make symptoms a little more pronounced.

My sweat test was 36. I have no bronchiectasis yet but I do culture for staph aureus. My sinuses run and I had sinus surgery once to open my passages. I'm pancreatic sufficient.

Bonnie
 
H

hopesiris

Guest
Hi,

If I understand correctly there is DF508 and 5T/TG12. That is what I have. I know of 2 other adults with this combination but at least one has a polymorphism M470 (I think) that I do not have. From what I've read that can make symptoms a little more pronounced.

My sweat test was 36. I have no bronchiectasis yet but I do culture for staph aureus. My sinuses run and I had sinus surgery once to open my passages. I'm pancreatic sufficient.

Bonnie
 
H

hopesiris

Guest
Hi,

If I understand correctly there is DF508 and 5T/TG12. That is what I have. I know of 2 other adults with this combination but at least one has a polymorphism M470 (I think) that I do not have. From what I've read that can make symptoms a little more pronounced.

My sweat test was 36. I have no bronchiectasis yet but I do culture for staph aureus. My sinuses run and I had sinus surgery once to open my passages. I'm pancreatic sufficient.

Bonnie
 
H

hopesiris

Guest
Hi,

If I understand correctly there is DF508 and 5T/TG12. That is what I have. I know of 2 other adults with this combination but at least one has a polymorphism M470 (I think) that I do not have. From what I've read that can make symptoms a little more pronounced.

My sweat test was 36. I have no bronchiectasis yet but I do culture for staph aureus. My sinuses run and I had sinus surgery once to open my passages. I'm pancreatic sufficient.

Bonnie
 
H

hopesiris

Guest
Hi,
<br />
<br />If I understand correctly there is DF508 and 5T/TG12. That is what I have. I know of 2 other adults with this combination but at least one has a polymorphism M470 (I think) that I do not have. From what I've read that can make symptoms a little more pronounced.
<br />
<br />My sweat test was 36. I have no bronchiectasis yet but I do culture for staph aureus. My sinuses run and I had sinus surgery once to open my passages. I'm pancreatic sufficient.
<br />
<br />Bonnie
 
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