• Profile photo of hmwhmw
    Member
    #171205138215
    Quest does need to update their web page. I freaked when I saw the number of 1,004 or whatever it was.

    Yeah, that was why I posted what I did. Those that know a lot about cf and how many mutations are there and look at Quest’s page and take that at face value won’t think Quest’s test is very good- they’ll think WHAT? 1,000 mutations? that’s a pretty small percentage of them! …not to mention there isn’t a word on that page about doing the deletion/duplication testing. That is important to tell people… patients and parents are becoming increasingly informed nowadays and are looking for the best (we need it, after all!) You don’t want people choosing to reject something based purely on dated information… this test is clearly superior to Genzyme or Mayo sequencing and you’d never know it looking at their website unless you DIG for the other article.

    Profile photo of hmwhmw
    Member
    #171205273445
    Quest does need to update their web page. I freaked when I saw the number of 1,004 or whatever it was.
    Yeah, that was why I posted what I did. Those that know a lot about cf and how many mutations are there and look at Quest’s page and take that at face value won’t think Quest’s test is very good- they’ll think WHAT? 1,000 mutations? that’s a pretty small percentage of them! …not to mention there isn’t a word on that page about doing the deletion/duplication testing. That is important to tell people… patients and parents are becoming increasingly informed nowadays and are looking for the best (we need it, after all!) You don’t want people choosing to reject something based purely on dated information… this test is clearly superior to Genzyme or Mayo sequencing and you’d never know it looking at their website unless you DIG for the other article.
    Profile photo of hmwhmw
    Member
    #171205404755
    Quest does need to update their web page. I freaked when I saw the number of 1,004 or whatever it was.

    Yeah, that was why I posted what I did. Those that know a lot about cf and how many mutations are there and look at Quest’s page and take that at face value won’t think Quest’s test is very good- they’ll think WHAT? 1,000 mutations? that’s a pretty small percentage of them! …not to mention there isn’t a word on that page about doing the deletion/duplication testing. That is important to tell people… patients and parents are becoming increasingly informed nowadays and are looking for the best (we need it, after all!) You don’t want people choosing to reject something based purely on dated information… this test is clearly superior to Genzyme or Mayo sequencing and you’d never know it looking at their website unless you DIG for the other article.
    Profile photo of martysmommartysmom
    Member
    #171205138204

    Quest says they test for over 1,000 ( so I guess that could mean 1700). That is what the woman I spoke to told me about 4 months ago. I guess it really isn’t the number but it is the sequencing. Marty’s doc said that the just go step by step through the CFTR gene. When they don’t find anything they do deletions and duplications. Quest does need to update their web page. I freaked when I saw the number of 1,004 or whatever it was. I really needed answers for my child, but the doc, nurse, and quest lady all reassured me that it was an excellent test. It is the same as the ambry amplified. I love quest because they found my son’s mutations and now we have answers and I am not a nutcase anymore…lol. The think to remember, as Harriet pointed out, no test is 100%. They have no idea how many mutations are undiscovered. These test for 98-99% OF KNOWN MUTATIONS. So according to CF mutations database, there are 1795 mutations (HOLY COW).
    Harriet,
    I am going to PM you later or tomorrow (got to get to bed)! I want to tell you about Marty’s test and what it says when I got the gene report back. I think you will find it interesting for Emily. Marty has discovered mutations, but I got quite a few pages decribing CF genetics with the test. Talk to you soon!

    Profile photo of martysmommartysmom
    Member
    #171205273437

    Quest says they test for over 1,000 ( so I guess that could mean 1700). That is what the woman I spoke to told me about 4 months ago. I guess it really isn’t the number but it is the sequencing. Marty’s doc said that the just go step by step through the CFTR gene. When they don’t find anything they do deletions and duplications. Quest does need to update their web page. I freaked when I saw the number of 1,004 or whatever it was. I really needed answers for my child, but the doc, nurse, and quest lady all reassured me that it was an excellent test. It is the same as the ambry amplified. I love quest because they found my son’s mutations and now we have answers and I am not a nutcase anymore…lol. The think to remember, as Harriet pointed out, no test is 100%. They have no idea how many mutations are undiscovered. These test for 98-99% OF KNOWN MUTATIONS. So according to CF mutations database, there are 1795 mutations (HOLY COW).
    Harriet,
    I am going to PM you later or tomorrow (got to get to bed)! I want to tell you about Marty’s test and what it says when I got the gene report back. I think you will find it interesting for Emily. Marty has discovered mutations, but I got quite a few pages decribing CF genetics with the test. Talk to you soon!

    Profile photo of martysmommartysmom
    Member
    #171205404747

    Quest says they test for over 1,000 ( so I guess that could mean 1700). That is what the woman I spoke to told me about 4 months ago. I guess it really isn’t the number but it is the sequencing. Marty’s doc said that the just go step by step through the CFTR gene. When they don’t find anything they do deletions and duplications. Quest does need to update their web page. I freaked when I saw the number of 1,004 or whatever it was. I really needed answers for my child, but the doc, nurse, and quest lady all reassured me that it was an excellent test. It is the same as the ambry amplified. I love quest because they found my son’s mutations and now we have answers and I am not a nutcase anymore…lol. The think to remember, as Harriet pointed out, no test is 100%. They have no idea how many mutations are undiscovered. These test for 98-99% OF KNOWN MUTATIONS. So according to CF mutations database, there are 1795 mutations (HOLY COW).

    Harriet,

    I am going to PM you later or tomorrow (got to get to bed)! I want to tell you about Marty’s test and what it says when I got the gene report back. I think you will find it interesting for Emily. Marty has discovered mutations, but I got quite a few pages decribing CF genetics with the test. Talk to you soon!

    Profile photo of jaybirdjaybird
    Member
    #171205138202

    Re. All Children’s: going purely ‘by the numbers’ compiled by the CFF care center data, they have statistics above national average, well above most of the other centers in FL. They are one of the 2 transplant centers in the state. So you are very fortunate to have access to care at such a great center! However, they do not have the top statistics in the country.

    Re. Quest’s genetic test, they really need to update their main webpage that shows up in Google searches to reflect the fact that their test can identify 99ish% of the 1,700 mutations that have been identified… not just 1,000. One of their main page makes their test look rather inferior compared to Genzyme or Mayo, when in fact it’s superior to either of those since it does offer the option of deletion & duplication testing.

    The Quest page that shows up on Google (I’ve seen this several times):
    Quest CF Complete

    What the test really is capable of:
    Cystic Fibrosis Complete Rare Mutation Analysis, Entire Gene Sequence I was quite impressed to see this. I had no idea they offered such a comprehensive test, having only seen the link I posted first in the past. None of the genetic sequencing tests (not even Ambry) can detect all the mutations buried in the introns. I wonder how many base pairs in Quest goes when checking the introns (if they do at all.) Ambry goes something like 28…?

    Profile photo of jaybirdjaybird
    Member
    #171205273435

    Re. All Children’s: going purely ‘by the numbers’ compiled by the CFF care center data, they have statistics above national average, well above most of the other centers in FL. They are one of the 2 transplant centers in the state. So you are very fortunate to have access to care at such a great center! However, they do not have the top statistics in the country.

    Re. Quest’s genetic test, they really need to update their main webpage that shows up in Google searches to reflect the fact that their test can identify 99ish% of the 1,700 mutations that have been identified… not just 1,000. One of their main page makes their test look rather inferior compared to Genzyme or Mayo, when in fact it’s superior to either of those since it does offer the option of deletion & duplication testing.

    The Quest page that shows up on Google (I’ve seen this several times):
    Quest CF Complete

    What the test really is capable of:
    Cystic Fibrosis Complete Rare Mutation Analysis, Entire Gene Sequence I was quite impressed to see this. I had no idea they offered such a comprehensive test, having only seen the link I posted first in the past. None of the genetic sequencing tests (not even Ambry) can detect all the mutations buried in the introns. I wonder how many base pairs in Quest goes when checking the introns (if they do at all.) Ambry goes something like 28…?

    Profile photo of jaybirdjaybird
    Member
    #171205404745

    Re. All Children’s: going purely ‘by the numbers’ compiled by the CFF care center data, they have statistics above national average, well above most of the other centers in FL. They are one of the 2 transplant centers in the state. So you are very fortunate to have access to care at such a great center! However, they do not have the top statistics in the country.

    Re. Quest’s genetic test, they really need to update their main webpage that shows up in Google searches to reflect the fact that their test can identify 99ish% of the 1,700 mutations that have been identified… not just 1,000. One of their main page makes their test look rather inferior compared to Genzyme or Mayo, when in fact it’s superior to either of those since it does offer the option of deletion & duplication testing.

    The Quest page that shows up on Google (I’ve seen this several times):

    Quest CF Complete

    What the test really is capable of:

    Cystic Fibrosis Complete Rare Mutation Analysis, Entire Gene Sequence I was quite impressed to see this. I had no idea they offered such a comprehensive test, having only seen the link I posted first in the past. None of the genetic sequencing tests (not even Ambry) can detect all the mutations buried in the introns. I wonder how many base pairs in Quest goes when checking the introns (if they do at all.) Ambry goes something like 28…?

    Profile photo of martysmommartysmom
    Member
    #171205138200

    NAVCHAPDOC,
    My son had his amplified genetic test sent to quest. Quest’s amplified test is very similar to the amby amplified. His results took 8 weeks to get back. I believe they also do just a smaller panel with 23 mutations as well. The amplified test does deletions and duplications and tests for over 1000 mutations. We thought we would never find an answer for our son until the doctor’s ran this test. He was previously tested for 32 mutations and was negative.
    Before we went to his current doctor, we went to a different GI specialist who suspected pancreatic insufficiency. I was so desperate for answers that I brought in pictures of his poop!!! She immediately tested his fecal elastase and when that came back low, she started him on enzymes. I am not sure if I still have the photos but I will look. I would recommend you do the same thing. Take in those pictures. It solved a lot of our problems.
    Also are you lining the diaper with plastic? Just make sure you catch the grease. When my son was in diapers the liquid grease stuff was always absorbed. His stools were also so bulky that they filled the entire diaper and the poop would shoot up his back all the way up to his hair!!! Sorry if TMI. They were orange and very loose but not watery. Sometimes I would see mucus in clumps throughout the daiper. We started to potty train after enzymes so I have no toilet bowl advise. A few times I have seen an orange film in the toilet that floats over the top of the water. I have also seen it shred apart in the water.
    Hope this helps and that you get your answers soon. The best advice someone gave me when we were trying to get a diagnosis was to never second guess myself and to keep pushing. It actually got to the point where we left the CF center we were at to go somewhere better. Keep us posted and I hope you have peace very soon with all of this!

    Profile photo of martysmommartysmom
    Member
    #171205273433

    NAVCHAPDOC,
    My son had his amplified genetic test sent to quest. Quest’s amplified test is very similar to the amby amplified. His results took 8 weeks to get back. I believe they also do just a smaller panel with 23 mutations as well. The amplified test does deletions and duplications and tests for over 1000 mutations. We thought we would never find an answer for our son until the doctor’s ran this test. He was previously tested for 32 mutations and was negative.
    Before we went to his current doctor, we went to a different GI specialist who suspected pancreatic insufficiency. I was so desperate for answers that I brought in pictures of his poop!!! She immediately tested his fecal elastase and when that came back low, she started him on enzymes. I am not sure if I still have the photos but I will look. I would recommend you do the same thing. Take in those pictures. It solved a lot of our problems.
    Also are you lining the diaper with plastic? Just make sure you catch the grease. When my son was in diapers the liquid grease stuff was always absorbed. His stools were also so bulky that they filled the entire diaper and the poop would shoot up his back all the way up to his hair!!! Sorry if TMI. They were orange and very loose but not watery. Sometimes I would see mucus in clumps throughout the daiper. We started to potty train after enzymes so I have no toilet bowl advise. A few times I have seen an orange film in the toilet that floats over the top of the water. I have also seen it shred apart in the water.
    Hope this helps and that you get your answers soon. The best advice someone gave me when we were trying to get a diagnosis was to never second guess myself and to keep pushing. It actually got to the point where we left the CF center we were at to go somewhere better. Keep us posted and I hope you have peace very soon with all of this!

    Profile photo of martysmommartysmom
    Member
    #171205404743

    NAVCHAPDOC,

    My son had his amplified genetic test sent to quest. Quest’s amplified test is very similar to the amby amplified. His results took 8 weeks to get back. I believe they also do just a smaller panel with 23 mutations as well. The amplified test does deletions and duplications and tests for over 1000 mutations. We thought we would never find an answer for our son until the doctor’s ran this test. He was previously tested for 32 mutations and was negative.

    Before we went to his current doctor, we went to a different GI specialist who suspected pancreatic insufficiency. I was so desperate for answers that I brought in pictures of his poop!!! She immediately tested his fecal elastase and when that came back low, she started him on enzymes. I am not sure if I still have the photos but I will look. I would recommend you do the same thing. Take in those pictures. It solved a lot of our problems.

    Also are you lining the diaper with plastic? Just make sure you catch the grease. When my son was in diapers the liquid grease stuff was always absorbed. His stools were also so bulky that they filled the entire diaper and the poop would shoot up his back all the way up to his hair!!! Sorry if TMI. They were orange and very loose but not watery. Sometimes I would see mucus in clumps throughout the daiper. We started to potty train after enzymes so I have no toilet bowl advise. A few times I have seen an orange film in the toilet that floats over the top of the water. I have also seen it shred apart in the water.

    Hope this helps and that you get your answers soon. The best advice someone gave me when we were trying to get a diagnosis was to never second guess myself and to keep pushing. It actually got to the point where we left the CF center we were at to go somewhere better. Keep us posted and I hope you have peace very soon with all of this!

    Profile photo of NAVCHAPDOCNAVCHAPDOC
    Member
    #171205138193

    @hmw,

    The sweat tests were done @ All Childrens hospital in St Pete, Fl. They are top ranked in the nation if not the world. They just could not get her to sweat. As for the DNA panel, all I know is that it was drawn by Quest. I am not sure how far they take the testing?? My daughter is doing much better. She is back to her normal self. I wanted her to recover completly before I did her stool collection (72 hr fecal fat, ect..) that way I know what her GI tract is doing on it’s good days. The panel still has yet to come back. Thanks to everyone for the replies.

    Profile photo of NAVCHAPDOCNAVCHAPDOC
    Member
    #171205273428

    @hmw,

    The sweat tests were done @ All Childrens hospital in St Pete, Fl. They are top ranked in the nation if not the world. They just could not get her to sweat. As for the DNA panel, all I know is that it was drawn by Quest. I am not sure how far they take the testing?? My daughter is doing much better. She is back to her normal self. I wanted her to recover completly before I did her stool collection (72 hr fecal fat, ect..) that way I know what her GI tract is doing on it’s good days. The panel still has yet to come back. Thanks to everyone for the replies.

    Profile photo of NAVCHAPDOCNAVCHAPDOC
    Member
    #171205404738

    @hmw,

    The sweat tests were done @ All Childrens hospital in St Pete, Fl. They are top ranked in the nation if not the world. They just could not get her to sweat. As for the DNA panel, all I know is that it was drawn by Quest. I am not sure how far they take the testing?? My daughter is doing much better. She is back to her normal self. I wanted her to recover completly before I did her stool collection (72 hr fecal fat, ect..) that way I know what her GI tract is doing on it’s good days. The panel still has yet to come back. Thanks to everyone for the replies.

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