Test results (anyone tell me what they mean please)

[mom2my3kids]

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!

 

[mom2my3kids]

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!

 

[mom2my3kids]

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!

 

[mom2my3kids]

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!

 

[mom2my3kids]

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!

 

[just1more]

Your best bet is to post in this the thread "Welcome to Ambry" at the top of the families forum.

Steven Kiles from Ambry (genetic testing co) is usually great about trying to put things in 'english'.

 

[just1more]

Your best bet is to post in this the thread "Welcome to Ambry" at the top of the families forum.

Steven Kiles from Ambry (genetic testing co) is usually great about trying to put things in 'english'.

 

[just1more]

Your best bet is to post in this the thread "Welcome to Ambry" at the top of the families forum.

Steven Kiles from Ambry (genetic testing co) is usually great about trying to put things in 'english'.

 

[just1more]

Your best bet is to post in this the thread "Welcome to Ambry" at the top of the families forum.

Steven Kiles from Ambry (genetic testing co) is usually great about trying to put things in 'english'.

 

[just1more]

Your best bet is to post in this the thread "Welcome to Ambry" at the top of the families forum.
<br />
<br />Steven Kiles from Ambry (genetic testing co) is usually great about trying to put things in 'english'.

 

[robert321]

its all greek to me but i thought i would bump it to see if anyone else had any good ideas

 

[robert321]

its all greek to me but i thought i would bump it to see if anyone else had any good ideas

 

[robert321]

its all greek to me but i thought i would bump it to see if anyone else had any good ideas

 

[robert321]

its all greek to me but i thought i would bump it to see if anyone else had any good ideas

 

[robert321]

its all greek to me but i thought i would bump it to see if anyone else had any good ideas
<br />

 

[hopesiris]

I looked at my Ambry results which are much easier to understand and I don't see any of that language. It clearly lists my mutation (DF508) and variant (5T TG12) and explains that the combination is associated with CBAVD and nonclassic CF. I'd check with Steve from Ambry to get a clear understanding of what the mutation/variants are. I did call him when I got my results and he was wonderful and answered all of my questions.

 

[hopesiris]

I looked at my Ambry results which are much easier to understand and I don't see any of that language. It clearly lists my mutation (DF508) and variant (5T TG12) and explains that the combination is associated with CBAVD and nonclassic CF. I'd check with Steve from Ambry to get a clear understanding of what the mutation/variants are. I did call him when I got my results and he was wonderful and answered all of my questions.

 

[hopesiris]

I looked at my Ambry results which are much easier to understand and I don't see any of that language. It clearly lists my mutation (DF508) and variant (5T TG12) and explains that the combination is associated with CBAVD and nonclassic CF. I'd check with Steve from Ambry to get a clear understanding of what the mutation/variants are. I did call him when I got my results and he was wonderful and answered all of my questions.

 

[hopesiris]

I looked at my Ambry results which are much easier to understand and I don't see any of that language. It clearly lists my mutation (DF508) and variant (5T TG12) and explains that the combination is associated with CBAVD and nonclassic CF. I'd check with Steve from Ambry to get a clear understanding of what the mutation/variants are. I did call him when I got my results and he was wonderful and answered all of my questions.

 

[hopesiris]

I looked at my Ambry results which are much easier to understand and I don't see any of that language. It clearly lists my mutation (DF508) and variant (5T TG12) and explains that the combination is associated with CBAVD and nonclassic CF. I'd check with Steve from Ambry to get a clear understanding of what the mutation/variants are. I did call him when I got my results and he was wonderful and answered all of my questions.
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