Very Frustrated and need to vent

okok · Jul 19, 2007

if genzyme does complete CFTR sequencing (including exon/intron junctions. not even ambry sequences full introns) and deletion/duplication testing then it is just as good as ambry. I was under the impression that only ambry or quest diagnostics offered these tests. Are you sure that they didn't send you child's DNA to ambry once the genzyme results came back negative??? It is extremely common for many people to only order sequncing from ambry (or quest) AFTER cheaper panels (such as the 97 panel) have turned up as negative. maybe they meant they don't ever start out with ambry testing anymore just genzyme...??

Sequencing should be good test even if from genezyme....assuming they sequence the full CFTR. If sequencing also turns up negative you will want the deltion/duplication testing.

Anyway good luck. I know this is so difficult.

okok · Jul 19, 2007

if genzyme does complete CFTR sequencing (including exon/intron junctions. not even ambry sequences full introns) and deletion/duplication testing then it is just as good as ambry. I was under the impression that only ambry or quest diagnostics offered these tests. Are you sure that they didn't send you child's DNA to ambry once the genzyme results came back negative??? It is extremely common for many people to only order sequncing from ambry (or quest) AFTER cheaper panels (such as the 97 panel) have turned up as negative. maybe they meant they don't ever start out with ambry testing anymore just genzyme...??

Sequencing should be good test even if from genezyme....assuming they sequence the full CFTR. If sequencing also turns up negative you will want the deltion/duplication testing.

Anyway good luck. I know this is so difficult.

okok · Jul 19, 2007

if genzyme does complete CFTR sequencing (including exon/intron junctions. not even ambry sequences full introns) and deletion/duplication testing then it is just as good as ambry. I was under the impression that only ambry or quest diagnostics offered these tests. Are you sure that they didn't send you child's DNA to ambry once the genzyme results came back negative??? It is extremely common for many people to only order sequncing from ambry (or quest) AFTER cheaper panels (such as the 97 panel) have turned up as negative. maybe they meant they don't ever start out with ambry testing anymore just genzyme...??

Sequencing should be good test even if from genezyme....assuming they sequence the full CFTR. If sequencing also turns up negative you will want the deltion/duplication testing.

Anyway good luck. I know this is so difficult.

okok · Jul 19, 2007

if genzyme does complete CFTR sequencing (including exon/intron junctions. not even ambry sequences full introns) and deletion/duplication testing then it is just as good as ambry. I was under the impression that only ambry or quest diagnostics offered these tests. Are you sure that they didn't send you child's DNA to ambry once the genzyme results came back negative??? It is extremely common for many people to only order sequncing from ambry (or quest) AFTER cheaper panels (such as the 97 panel) have turned up as negative. maybe they meant they don't ever start out with ambry testing anymore just genzyme...??

Sequencing should be good test even if from genezyme....assuming they sequence the full CFTR. If sequencing also turns up negative you will want the deltion/duplication testing.

Anyway good luck. I know this is so difficult.

okok · Jul 19, 2007

Hi,

I just checked the genzyme webpage and here is what it says about their sequencing:

"Cystic Fibrosis (CF) Gene Sequencing

CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay."

As far as i can tell this should be just as good as ambry sequencing. It sequences all 27 exons, splice site regions (ie intron/exon junctions) and intron regions known to cause disease. I'm sure both ambry and genzyme also sequence the promoter region although i have not read anywhere that specifically states they do. I would be shocked if they didn't though. Both ambry and genzyme cite a 97-98% accuracy for sequencing too. Deletion/duplication testing increases the sensitvity of sequencing from about 98% to about 99%. I am not sure though that genzyme does deletion/duplication testing. If you end up needing this perhaps you can have it done at ambry or quest though i hear quest takes longer than ambry.

okok · Jul 19, 2007

Hi,

I just checked the genzyme webpage and here is what it says about their sequencing:

"Cystic Fibrosis (CF) Gene Sequencing

CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay."

As far as i can tell this should be just as good as ambry sequencing. It sequences all 27 exons, splice site regions (ie intron/exon junctions) and intron regions known to cause disease. I'm sure both ambry and genzyme also sequence the promoter region although i have not read anywhere that specifically states they do. I would be shocked if they didn't though. Both ambry and genzyme cite a 97-98% accuracy for sequencing too. Deletion/duplication testing increases the sensitvity of sequencing from about 98% to about 99%. I am not sure though that genzyme does deletion/duplication testing. If you end up needing this perhaps you can have it done at ambry or quest though i hear quest takes longer than ambry.

okok · Jul 19, 2007

Hi,

I just checked the genzyme webpage and here is what it says about their sequencing:

"Cystic Fibrosis (CF) Gene Sequencing

CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay."

As far as i can tell this should be just as good as ambry sequencing. It sequences all 27 exons, splice site regions (ie intron/exon junctions) and intron regions known to cause disease. I'm sure both ambry and genzyme also sequence the promoter region although i have not read anywhere that specifically states they do. I would be shocked if they didn't though. Both ambry and genzyme cite a 97-98% accuracy for sequencing too. Deletion/duplication testing increases the sensitvity of sequencing from about 98% to about 99%. I am not sure though that genzyme does deletion/duplication testing. If you end up needing this perhaps you can have it done at ambry or quest though i hear quest takes longer than ambry.

okok · Jul 19, 2007

Hi,

I just checked the genzyme webpage and here is what it says about their sequencing:

"Cystic Fibrosis (CF) Gene Sequencing

CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay."

As far as i can tell this should be just as good as ambry sequencing. It sequences all 27 exons, splice site regions (ie intron/exon junctions) and intron regions known to cause disease. I'm sure both ambry and genzyme also sequence the promoter region although i have not read anywhere that specifically states they do. I would be shocked if they didn't though. Both ambry and genzyme cite a 97-98% accuracy for sequencing too. Deletion/duplication testing increases the sensitvity of sequencing from about 98% to about 99%. I am not sure though that genzyme does deletion/duplication testing. If you end up needing this perhaps you can have it done at ambry or quest though i hear quest takes longer than ambry.

okok · Jul 19, 2007

Hi,

I just checked the genzyme webpage and here is what it says about their sequencing:

"Cystic Fibrosis (CF) Gene Sequencing

CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay."

As far as i can tell this should be just as good as ambry sequencing. It sequences all 27 exons, splice site regions (ie intron/exon junctions) and intron regions known to cause disease. I'm sure both ambry and genzyme also sequence the promoter region although i have not read anywhere that specifically states they do. I would be shocked if they didn't though. Both ambry and genzyme cite a 97-98% accuracy for sequencing too. Deletion/duplication testing increases the sensitvity of sequencing from about 98% to about 99%. I am not sure though that genzyme does deletion/duplication testing. If you end up needing this perhaps you can have it done at ambry or quest though i hear quest takes longer than ambry.

okok · Jul 19, 2007

Hi,

I just checked the genzyme webpage and here is what it says about their sequencing:

"Cystic Fibrosis (CF) Gene Sequencing

CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay."

As far as i can tell this should be just as good as ambry sequencing. It sequences all 27 exons, splice site regions (ie intron/exon junctions) and intron regions known to cause disease. I'm sure both ambry and genzyme also sequence the promoter region although i have not read anywhere that specifically states they do. I would be shocked if they didn't though. Both ambry and genzyme cite a 97-98% accuracy for sequencing too. Deletion/duplication testing increases the sensitvity of sequencing from about 98% to about 99%. I am not sure though that genzyme does deletion/duplication testing. If you end up needing this perhaps you can have it done at ambry or quest though i hear quest takes longer than ambry.

domsmom · Jul 19, 2007