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!
<br />
 
H

holmfamily1992

New member
Oh My...sounds way more complicated then our results did. I hope you get some answers or maybe someone on here could help. Also go to the Ambrey Genetic forum on here. Post the question to Steve. He may be able to help.

Tina
<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 
H

holmfamily1992

New member
Oh My...sounds way more complicated then our results did. I hope you get some answers or maybe someone on here could help. Also go to the Ambrey Genetic forum on here. Post the question to Steve. He may be able to help.

Tina
<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 
H

holmfamily1992

New member
Oh My...sounds way more complicated then our results did. I hope you get some answers or maybe someone on here could help. Also go to the Ambrey Genetic forum on here. Post the question to Steve. He may be able to help.

Tina
<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 
H

holmfamily1992

New member
Oh My...sounds way more complicated then our results did. I hope you get some answers or maybe someone on here could help. Also go to the Ambrey Genetic forum on here. Post the question to Steve. He may be able to help.

Tina
<img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 
H

holmfamily1992

New member
Oh My...sounds way more complicated then our results did. I hope you get some answers or maybe someone on here could help. Also go to the Ambrey Genetic forum on here. Post the question to Steve. He may be able to help.
<br />
<br />Tina
<br /><img src="http://i284.photobucket.com/albums/ll15/holmfamiy/family-1.jpg">
 
J

Juliet

New member
It sounds like one mutation 1) is the DF508 mutation. <a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/MutationDetailPage.external?sp=246">http://cvs.genet.sickkids.on.c...ilPage.external?sp=246</a> Codon 508 is where the 508 number comes in that name. It resides on Exon #10 (part of the protein). You can visually "see" a graphical representation of the CFTR protein here: <a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/CftrDomainPage.html?domainName=NBD1#result">http://cvs.genet.sickkids.on.c...domainName=NBD1#result</a> NBD1 is where the F508 mutation resides. It's a binding domain. For the protein to transport salt across the membrane something binds there, then the salt can move across the membrane from inside to outside of the cell via the channel (the yellow things on the diagram). DF508 mutations have something wrong with the binding domain so it doesn't work quite right.

2) has to do with mutations in the intron parts of the chromosome. DNA doesn't build proteins directly, there are several steps to go from the DNA in the chromosome to building the protein. CHromosomes build MRNA which consist of sections of introns + exons strung together. THe mRNA gets converted to RNA and the introns are removed leaving only the exon segments. The exon segments from the RNA then gets built into the CFTR protein. I don't really understand how that all works, but depending on which mutation on the CFTR is found, (those 5T/7T and so forth) have an impact somehow in the DNA to RNA process and hence the CFTR building.

I think the third thing has to do with the QA of the testing process itself. As Tina suggested you can probably get more info from Steve at Ambry. THere's a stickey thread at the top of this section. You might want to repost your Q there.

~Juliet
 
J

Juliet

New member
It sounds like one mutation 1) is the DF508 mutation. <a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/MutationDetailPage.external?sp=246">http://cvs.genet.sickkids.on.c...ilPage.external?sp=246</a> Codon 508 is where the 508 number comes in that name. It resides on Exon #10 (part of the protein). You can visually "see" a graphical representation of the CFTR protein here: <a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/CftrDomainPage.html?domainName=NBD1#result">http://cvs.genet.sickkids.on.c...domainName=NBD1#result</a> NBD1 is where the F508 mutation resides. It's a binding domain. For the protein to transport salt across the membrane something binds there, then the salt can move across the membrane from inside to outside of the cell via the channel (the yellow things on the diagram). DF508 mutations have something wrong with the binding domain so it doesn't work quite right.

2) has to do with mutations in the intron parts of the chromosome. DNA doesn't build proteins directly, there are several steps to go from the DNA in the chromosome to building the protein. CHromosomes build MRNA which consist of sections of introns + exons strung together. THe mRNA gets converted to RNA and the introns are removed leaving only the exon segments. The exon segments from the RNA then gets built into the CFTR protein. I don't really understand how that all works, but depending on which mutation on the CFTR is found, (those 5T/7T and so forth) have an impact somehow in the DNA to RNA process and hence the CFTR building.

I think the third thing has to do with the QA of the testing process itself. As Tina suggested you can probably get more info from Steve at Ambry. THere's a stickey thread at the top of this section. You might want to repost your Q there.

~Juliet
 
J

Juliet

New member
It sounds like one mutation 1) is the DF508 mutation. <a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/MutationDetailPage.external?sp=246">http://cvs.genet.sickkids.on.c...ilPage.external?sp=246</a> Codon 508 is where the 508 number comes in that name. It resides on Exon #10 (part of the protein). You can visually "see" a graphical representation of the CFTR protein here: <a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/CftrDomainPage.html?domainName=NBD1#result">http://cvs.genet.sickkids.on.c...domainName=NBD1#result</a> NBD1 is where the F508 mutation resides. It's a binding domain. For the protein to transport salt across the membrane something binds there, then the salt can move across the membrane from inside to outside of the cell via the channel (the yellow things on the diagram). DF508 mutations have something wrong with the binding domain so it doesn't work quite right.

2) has to do with mutations in the intron parts of the chromosome. DNA doesn't build proteins directly, there are several steps to go from the DNA in the chromosome to building the protein. CHromosomes build MRNA which consist of sections of introns + exons strung together. THe mRNA gets converted to RNA and the introns are removed leaving only the exon segments. The exon segments from the RNA then gets built into the CFTR protein. I don't really understand how that all works, but depending on which mutation on the CFTR is found, (those 5T/7T and so forth) have an impact somehow in the DNA to RNA process and hence the CFTR building.

I think the third thing has to do with the QA of the testing process itself. As Tina suggested you can probably get more info from Steve at Ambry. THere's a stickey thread at the top of this section. You might want to repost your Q there.

~Juliet
 
J

Juliet

New member
It sounds like one mutation 1) is the DF508 mutation. <a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/MutationDetailPage.external?sp=246">http://cvs.genet.sickkids.on.c...ilPage.external?sp=246</a> Codon 508 is where the 508 number comes in that name. It resides on Exon #10 (part of the protein). You can visually "see" a graphical representation of the CFTR protein here: <a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/CftrDomainPage.html?domainName=NBD1#result">http://cvs.genet.sickkids.on.c...domainName=NBD1#result</a> NBD1 is where the F508 mutation resides. It's a binding domain. For the protein to transport salt across the membrane something binds there, then the salt can move across the membrane from inside to outside of the cell via the channel (the yellow things on the diagram). DF508 mutations have something wrong with the binding domain so it doesn't work quite right.

2) has to do with mutations in the intron parts of the chromosome. DNA doesn't build proteins directly, there are several steps to go from the DNA in the chromosome to building the protein. CHromosomes build MRNA which consist of sections of introns + exons strung together. THe mRNA gets converted to RNA and the introns are removed leaving only the exon segments. The exon segments from the RNA then gets built into the CFTR protein. I don't really understand how that all works, but depending on which mutation on the CFTR is found, (those 5T/7T and so forth) have an impact somehow in the DNA to RNA process and hence the CFTR building.

I think the third thing has to do with the QA of the testing process itself. As Tina suggested you can probably get more info from Steve at Ambry. THere's a stickey thread at the top of this section. You might want to repost your Q there.

~Juliet
 
J

Juliet

New member
It sounds like one mutation 1) is the DF508 mutation. <a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/MutationDetailPage.external?sp=246">http://cvs.genet.sickkids.on.c...ilPage.external?sp=246</a> Codon 508 is where the 508 number comes in that name. It resides on Exon #10 (part of the protein). You can visually "see" a graphical representation of the CFTR protein here: <a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/CftrDomainPage.html?domainName=NBD1#result">http://cvs.genet.sickkids.on.c...domainName=NBD1#result</a> NBD1 is where the F508 mutation resides. It's a binding domain. For the protein to transport salt across the membrane something binds there, then the salt can move across the membrane from inside to outside of the cell via the channel (the yellow things on the diagram). DF508 mutations have something wrong with the binding domain so it doesn't work quite right.
<br />
<br />2) has to do with mutations in the intron parts of the chromosome. DNA doesn't build proteins directly, there are several steps to go from the DNA in the chromosome to building the protein. CHromosomes build MRNA which consist of sections of introns + exons strung together. THe mRNA gets converted to RNA and the introns are removed leaving only the exon segments. The exon segments from the RNA then gets built into the CFTR protein. I don't really understand how that all works, but depending on which mutation on the CFTR is found, (those 5T/7T and so forth) have an impact somehow in the DNA to RNA process and hence the CFTR building.
<br />
<br />I think the third thing has to do with the QA of the testing process itself. As Tina suggested you can probably get more info from Steve at Ambry. THere's a stickey thread at the top of this section. You might want to repost your Q there.
<br />
<br />~Juliet
<br />
<br />
 
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