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 all 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 all 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 all 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 all 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 all 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!
 
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