They said that the test results should be back in two weeks well it's been two weeks and nothing has come back. I continue to wonder if this is a good indicator or bad? I just wonder if I am being TOOOOO impatient and unreasonable at the same time. Our genetic testing was being sent to genezyme can anyone explain to me better what the genetic sequencing analysis will look for? I don't know much about it.... any advice and info apprec. MLAG
You are using an out of date browser. It may not display this or other websites correctly.
You should upgrade or use an alternative browser.
You should upgrade or use an alternative browser.
still waiting, good or bad?
- Thread starter mlag2010
- Start date
They said that the test results should be back in two weeks well it's been two weeks and nothing has come back. I continue to wonder if this is a good indicator or bad? I just wonder if I am being TOOOOO impatient and unreasonable at the same time. Our genetic testing was being sent to genezyme can anyone explain to me better what the genetic sequencing analysis will look for? I don't know much about it.... any advice and info apprec. MLAG
They said that the test results should be back in two weeks well it's been two weeks and nothing has come back. I continue to wonder if this is a good indicator or bad? I just wonder if I am being TOOOOO impatient and unreasonable at the same time. Our genetic testing was being sent to genezyme can anyone explain to me better what the genetic sequencing analysis will look for? I don't know much about it.... any advice and info apprec. MLAG
Sorry you are going through this. My sons genetic tests were sent to quest and they were suppose to take 4 weeks but took 9. It was crazy!! I have a feeling there was something up with insurance. I looked up Genzyme and they do two tests. There is a comprehensive test that tests for 98% of all the known mutations(there are over 1600) and that can take longer than the 97 mutation panel. They are looking for 2 mutations on the CFTR gene. My son's test came back showing mutations and it took forever to get the results. Have you tied calling the doctor to see if they have the results? Sometimes it could just be that they haven't reviewed the results yet. I hope you are doing okay. I sure do know what you are going through. I will be praying for you that the results come back negative!
Sorry you are going through this. My sons genetic tests were sent to quest and they were suppose to take 4 weeks but took 9. It was crazy!! I have a feeling there was something up with insurance. I looked up Genzyme and they do two tests. There is a comprehensive test that tests for 98% of all the known mutations(there are over 1600) and that can take longer than the 97 mutation panel. They are looking for 2 mutations on the CFTR gene. My son's test came back showing mutations and it took forever to get the results. Have you tied calling the doctor to see if they have the results? Sometimes it could just be that they haven't reviewed the results yet. I hope you are doing okay. I sure do know what you are going through. I will be praying for you that the results come back negative!
Sorry you are going through this. My sons genetic tests were sent to quest and they were suppose to take 4 weeks but took 9. It was crazy!! I have a feeling there was something up with insurance. I looked up Genzyme and they do two tests. There is a comprehensive test that tests for 98% of all the known mutations(there are over 1600) and that can take longer than the 97 mutation panel. They are looking for 2 mutations on the CFTR gene. My son's test came back showing mutations and it took forever to get the results. Have you tied calling the doctor to see if they have the results? Sometimes it could just be that they haven't reviewed the results yet. I hope you are doing okay. I sure do know what you are going through. I will be praying for you that the results come back negative!
M
Mommafirst
Guest
We sent ours to Ambry and it took 8 weeks. It was agonizing so I feel your pain. I kept thinking that the more time that goes by the less likely they will find a second mutation for my daughter. In the sequencing they are basically meticulously searching through each possible mutation. Since there are so many it takes a long long time. I figured that every day that went by mean mutations that weren't found, but in the end they still found another one.
Hang in there.
Hang in there.
M
Mommafirst
Guest
We sent ours to Ambry and it took 8 weeks. It was agonizing so I feel your pain. I kept thinking that the more time that goes by the less likely they will find a second mutation for my daughter. In the sequencing they are basically meticulously searching through each possible mutation. Since there are so many it takes a long long time. I figured that every day that went by mean mutations that weren't found, but in the end they still found another one.
Hang in there.
Hang in there.
M
Mommafirst
Guest
We sent ours to Ambry and it took 8 weeks. It was agonizing so I feel your pain. I kept thinking that the more time that goes by the less likely they will find a second mutation for my daughter. In the sequencing they are basically meticulously searching through each possible mutation. Since there are so many it takes a long long time. I figured that every day that went by mean mutations that weren't found, but in the end they still found another one.
<br />
<br />Hang in there.
<br />
<br />Hang in there.
We had genetic sequencing done as well (Ambry in our case rather than Genzyme) and it took 4-5wks... very VERY long weeks. Hang in there... it is so hard waiting.
eta>
re. your question about what the test is looking for: there are two ways of genetically testing for CF; panel testing or genetic sequencing.
A <b>panel</b> test, widely available through many labs, looks for a bunch of pre-selected mutations. This would be the most common mutation- df508- and anywhere from 30-100ish others that they decide are 'common' although none of the others are found in more than 1-2% of those with CF, and most in much tinier proportions (think fractions of 1%.) Someone can have one of the other 1,600+ mutations not included on a panel but it would not show up. A panel can only 'find' what it is told to look for.
A <b>genetic sequencing</b> test (Ambry, Genzyme, and sort of Quest- their test only yields, to my knowledge about 1000 mutations) on the other hand, systematically examines the gene and identifies any mutation there- even if it's never before been seen. This is why doing this kind of test is important for someone suspected of having cf- a panel can only catch a handful of mutations. Genetic sequencing has identified well over 1,600 at this point. You can only find the vast majority of them with this kind of test.
eta>
re. your question about what the test is looking for: there are two ways of genetically testing for CF; panel testing or genetic sequencing.
A <b>panel</b> test, widely available through many labs, looks for a bunch of pre-selected mutations. This would be the most common mutation- df508- and anywhere from 30-100ish others that they decide are 'common' although none of the others are found in more than 1-2% of those with CF, and most in much tinier proportions (think fractions of 1%.) Someone can have one of the other 1,600+ mutations not included on a panel but it would not show up. A panel can only 'find' what it is told to look for.
A <b>genetic sequencing</b> test (Ambry, Genzyme, and sort of Quest- their test only yields, to my knowledge about 1000 mutations) on the other hand, systematically examines the gene and identifies any mutation there- even if it's never before been seen. This is why doing this kind of test is important for someone suspected of having cf- a panel can only catch a handful of mutations. Genetic sequencing has identified well over 1,600 at this point. You can only find the vast majority of them with this kind of test.
We had genetic sequencing done as well (Ambry in our case rather than Genzyme) and it took 4-5wks... very VERY long weeks. Hang in there... it is so hard waiting.
eta>
re. your question about what the test is looking for: there are two ways of genetically testing for CF; panel testing or genetic sequencing.
A <b>panel</b> test, widely available through many labs, looks for a bunch of pre-selected mutations. This would be the most common mutation- df508- and anywhere from 30-100ish others that they decide are 'common' although none of the others are found in more than 1-2% of those with CF, and most in much tinier proportions (think fractions of 1%.) Someone can have one of the other 1,600+ mutations not included on a panel but it would not show up. A panel can only 'find' what it is told to look for.
A <b>genetic sequencing</b> test (Ambry, Genzyme, and sort of Quest- their test only yields, to my knowledge about 1000 mutations) on the other hand, systematically examines the gene and identifies any mutation there- even if it's never before been seen. This is why doing this kind of test is important for someone suspected of having cf- a panel can only catch a handful of mutations. Genetic sequencing has identified well over 1,600 at this point. You can only find the vast majority of them with this kind of test.
eta>
re. your question about what the test is looking for: there are two ways of genetically testing for CF; panel testing or genetic sequencing.
A <b>panel</b> test, widely available through many labs, looks for a bunch of pre-selected mutations. This would be the most common mutation- df508- and anywhere from 30-100ish others that they decide are 'common' although none of the others are found in more than 1-2% of those with CF, and most in much tinier proportions (think fractions of 1%.) Someone can have one of the other 1,600+ mutations not included on a panel but it would not show up. A panel can only 'find' what it is told to look for.
A <b>genetic sequencing</b> test (Ambry, Genzyme, and sort of Quest- their test only yields, to my knowledge about 1000 mutations) on the other hand, systematically examines the gene and identifies any mutation there- even if it's never before been seen. This is why doing this kind of test is important for someone suspected of having cf- a panel can only catch a handful of mutations. Genetic sequencing has identified well over 1,600 at this point. You can only find the vast majority of them with this kind of test.
We had genetic sequencing done as well (Ambry in our case rather than Genzyme) and it took 4-5wks... very VERY long weeks. Hang in there... it is so hard waiting.
<br />
<br />eta>
<br />re. your question about what the test is looking for: there are two ways of genetically testing for CF; panel testing or genetic sequencing.
<br />
<br />A <b>panel</b> test, widely available through many labs, looks for a bunch of pre-selected mutations. This would be the most common mutation- df508- and anywhere from 30-100ish others that they decide are 'common' although none of the others are found in more than 1-2% of those with CF, and most in much tinier proportions (think fractions of 1%.) Someone can have one of the other 1,600+ mutations not included on a panel but it would not show up. A panel can only 'find' what it is told to look for.
<br />
<br />A <b>genetic sequencing</b> test (Ambry, Genzyme, and sort of Quest- their test only yields, to my knowledge about 1000 mutations) on the other hand, systematically examines the gene and identifies any mutation there- even if it's never before been seen. This is why doing this kind of test is important for someone suspected of having cf- a panel can only catch a handful of mutations. Genetic sequencing has identified well over 1,600 at this point. You can only find the vast majority of them with this kind of test.
<br />
<br />eta>
<br />re. your question about what the test is looking for: there are two ways of genetically testing for CF; panel testing or genetic sequencing.
<br />
<br />A <b>panel</b> test, widely available through many labs, looks for a bunch of pre-selected mutations. This would be the most common mutation- df508- and anywhere from 30-100ish others that they decide are 'common' although none of the others are found in more than 1-2% of those with CF, and most in much tinier proportions (think fractions of 1%.) Someone can have one of the other 1,600+ mutations not included on a panel but it would not show up. A panel can only 'find' what it is told to look for.
<br />
<br />A <b>genetic sequencing</b> test (Ambry, Genzyme, and sort of Quest- their test only yields, to my knowledge about 1000 mutations) on the other hand, systematically examines the gene and identifies any mutation there- even if it's never before been seen. This is why doing this kind of test is important for someone suspected of having cf- a panel can only catch a handful of mutations. Genetic sequencing has identified well over 1,600 at this point. You can only find the vast majority of them with this kind of test.