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Welcome Ambry Genetics
- Thread starter Buckeye
- Start date
StevenKeiles
New member
Steven (Ambry)
Hello again everyone,
A couple of responses to recently asked questions,
Yes you can use Ambry from anywhere in the world. We have received samples from many countries and have regular clients in Argentina, Brazil, Chile, Japan, Iceland, India, Czech Republic and many other countries.
Yes there are some mutations that milder and some that more severe, but remember there is variability with all mutations and two people, even siblings with the same mutations will not necessarily have the same disease.
As a general rule if you have one or two milder mutations you will have milder disease, but there is variabilty even within the same mutations.
Steve
Hello again everyone,
A couple of responses to recently asked questions,
Yes you can use Ambry from anywhere in the world. We have received samples from many countries and have regular clients in Argentina, Brazil, Chile, Japan, Iceland, India, Czech Republic and many other countries.
Yes there are some mutations that milder and some that more severe, but remember there is variability with all mutations and two people, even siblings with the same mutations will not necessarily have the same disease.
As a general rule if you have one or two milder mutations you will have milder disease, but there is variabilty even within the same mutations.
Steve
Caleblove0802
New member
Steven (Ambry)
Hi Steve-You emailed me a link for some info on one of my son's mutations. He has G551D and 2585delT. You stated in your previous posting that if a person has 2 milder mutations there disease may be a milder form (not necessarily always the case-but most of the time). How do I figure out what is a milder gene mutation and which one is a more severe mutation? An example being-my son's mutations vs the DeltaF508?
Thanks a bunch for your help!!!!!!
Melissa
1 son, Caleb, 14 mos w/CF
Hi Steve-You emailed me a link for some info on one of my son's mutations. He has G551D and 2585delT. You stated in your previous posting that if a person has 2 milder mutations there disease may be a milder form (not necessarily always the case-but most of the time). How do I figure out what is a milder gene mutation and which one is a more severe mutation? An example being-my son's mutations vs the DeltaF508?
Thanks a bunch for your help!!!!!!
Melissa
1 son, Caleb, 14 mos w/CF
L
lemonstolemonade
Guest
False Positives?
We have an infant that was diagnosed prenatally with CF through the
other genetic testing group for CF. In your experience, what is the
chance that the amnio test could have given us a false positive? We
were thinking of having her retested, but we were reassured by our
clinic that the odds of a false positive on a prenatal screening
through amnio were infanently (sp) smaller than getting a false
negative through the same screening. We have some family pressuring
us to get her retested. We are fine with what her Dr. thinks.
Ultimately, we are just curious. I know there has tobe a big
difference between the two testing companies, but I hope you can
shed some light on the odds in general. Especially since I can't
get anyone on the phone or through email with the other company to
ask this question.
Thanks in advance for your time!
We have an infant that was diagnosed prenatally with CF through the
other genetic testing group for CF. In your experience, what is the
chance that the amnio test could have given us a false positive? We
were thinking of having her retested, but we were reassured by our
clinic that the odds of a false positive on a prenatal screening
through amnio were infanently (sp) smaller than getting a false
negative through the same screening. We have some family pressuring
us to get her retested. We are fine with what her Dr. thinks.
Ultimately, we are just curious. I know there has tobe a big
difference between the two testing companies, but I hope you can
shed some light on the odds in general. Especially since I can't
get anyone on the phone or through email with the other company to
ask this question.
Thanks in advance for your time!
StevenKeiles
New member
Regarding mild or severe mutations, I think a better way to say it is a more typical CF mutation and a milder CF mutation. Remember there is a wide range of symptoms that can occur with all mutations.
G551D is a more typical CF mutation
2585delT is rare, but I would predict it to be more typical, based on the type of mutation that it is, because it involves a small deletion.
L997F is often seen with a milder presentation and often with GI problems such as pancreatitis.
Regarding false positives, I already replied on the other thread, but to quickly summarize...
When two mutations are known the testing is very accurate, regardless of which lab does the testing. I do not think retesting is necessary, but if that is what you need for peace of mind, testing can be done for just the two known mutations. In fact we can do that for $300.
I hope that helps.
Steve
G551D is a more typical CF mutation
2585delT is rare, but I would predict it to be more typical, based on the type of mutation that it is, because it involves a small deletion.
L997F is often seen with a milder presentation and often with GI problems such as pancreatitis.
Regarding false positives, I already replied on the other thread, but to quickly summarize...
When two mutations are known the testing is very accurate, regardless of which lab does the testing. I do not think retesting is necessary, but if that is what you need for peace of mind, testing can be done for just the two known mutations. In fact we can do that for $300.
I hope that helps.
Steve
my65roses4me
New member
Husband needs to be tested
Hi Steven
I have a few questions for you.
My husband has Kaiser Insurance and needs to have a gentic test done to see if he is a carrier of CF. Can you tell me whether Kaiser will pay for the test or not? And if they dont cover it can you tell me how much it will be.
I have CF and we want to have our own child. When he is tested and say he is tested neg for CF what are the chances that he still has a cf gene thats not detected?
Should we make sure to test for the genes that I have which are both Delta F508? How should we aproach the testing to get a more acurate test results?
I am assuming that his Dr knows how to go about doing this but I want to here it from you, about what we should be looking for so we are better prepared. Thanks for your help!
Hi Steven
I have a few questions for you.
My husband has Kaiser Insurance and needs to have a gentic test done to see if he is a carrier of CF. Can you tell me whether Kaiser will pay for the test or not? And if they dont cover it can you tell me how much it will be.
I have CF and we want to have our own child. When he is tested and say he is tested neg for CF what are the chances that he still has a cf gene thats not detected?
Should we make sure to test for the genes that I have which are both Delta F508? How should we aproach the testing to get a more acurate test results?
I am assuming that his Dr knows how to go about doing this but I want to here it from you, about what we should be looking for so we are better prepared. Thanks for your help!
my65roses4me
New member
Husband needs to be tested
Wow that great news Chris Thanks! Do you have Kaiser?
Wow that great news Chris Thanks! Do you have Kaiser?
StevenKeiles
New member
Husband needs to be tested
Khristina,
Yes as Chris said, Kaiser will do the test and it is covered. In fact Kaiser has their own CF test that includes the deltaF508 mutations. If he is negative the chance that he is a carrier of another mutation is about 1 in 200.
We actually receive a lot of samples from Kaiser as well. It is possible for them to send us a sample for further testing if his test is negative at Kaiser. Since you carry two deltaF508 mutations, I don't think there would be a problem requesting more comprehensive testing if his test at Kaiser is negative.
Which Kaiser do you go to, I can refer you to someone who can make this easier for you? I worked at Kaiser for 16 years before coming to Ambry, so I am pretty familiar with the system and the people there.
Let me know if there are any other questions,
Steve
Khristina,
Yes as Chris said, Kaiser will do the test and it is covered. In fact Kaiser has their own CF test that includes the deltaF508 mutations. If he is negative the chance that he is a carrier of another mutation is about 1 in 200.
We actually receive a lot of samples from Kaiser as well. It is possible for them to send us a sample for further testing if his test is negative at Kaiser. Since you carry two deltaF508 mutations, I don't think there would be a problem requesting more comprehensive testing if his test at Kaiser is negative.
Which Kaiser do you go to, I can refer you to someone who can make this easier for you? I worked at Kaiser for 16 years before coming to Ambry, so I am pretty familiar with the system and the people there.
Let me know if there are any other questions,
Steve
my65roses4me
New member
Husband needs to be tested
Thanks Steven,
My husband goes to the Kaiser in Palmdale Ca for his dr apt but for specialist he goes to Panorama City Ca.
So after he tests neg at Kaiser and then a sample is sent to you and say he still test neg would it be safe to say that our child would be free of CF?
We were considering going to the IVF and PGD route would you still reccomend this if he test neg with Ambry and Kaiser?
Thanks Steven,
My husband goes to the Kaiser in Palmdale Ca for his dr apt but for specialist he goes to Panorama City Ca.
So after he tests neg at Kaiser and then a sample is sent to you and say he still test neg would it be safe to say that our child would be free of CF?
We were considering going to the IVF and PGD route would you still reccomend this if he test neg with Ambry and Kaiser?
StevenKeiles
New member
Husband needs to be tested
We receive samples from the Pan City clinic all the time, so getting a sample to us should not be a problem. If he is positive on either test then PGD would be an option. If he is negative on our test, PGD would not be necessary because we would not know what to look for since we didn't find anything. If he is Ambry negative, the risks to have a child with CF would not be zero because nothing is 100% however the risks would be about 1 in 4800. Just for comparison the incidence of the disease for anyone else is about 1 in 3,000. So even though you have CF, the risks to have an affected child would be less than the general population if he is Ambry negative.
Best of luck,
Steve
We receive samples from the Pan City clinic all the time, so getting a sample to us should not be a problem. If he is positive on either test then PGD would be an option. If he is negative on our test, PGD would not be necessary because we would not know what to look for since we didn't find anything. If he is Ambry negative, the risks to have a child with CF would not be zero because nothing is 100% however the risks would be about 1 in 4800. Just for comparison the incidence of the disease for anyone else is about 1 in 3,000. So even though you have CF, the risks to have an affected child would be less than the general population if he is Ambry negative.
Best of luck,
Steve
my65roses4me
New member
Husband needs to be tested
Thanks Steven you are great! Its so nice to have direct contact with you!
Does your clinic do the PGD? You aren't far from me at all.
I would like to get a list of repretable companies to get the PGD done if we need to. I have done some research on my own and found a few places but have no idea about how reliable they are.
When we go to my husband's Dr to get the genetic test done I will ask for a sample to be sent to Ambry too. The genetic test is done by a blood sample correct?
I want to do all I can to prevent our baby from having CF, and other diseases too. So I need all the information I can get. And if at the end of our homework we still dont feel comfortable having our own child then we may consider adoption but this is our first choice.
Thanks
Thanks Steven you are great! Its so nice to have direct contact with you!
Does your clinic do the PGD? You aren't far from me at all.
I would like to get a list of repretable companies to get the PGD done if we need to. I have done some research on my own and found a few places but have no idea about how reliable they are.
When we go to my husband's Dr to get the genetic test done I will ask for a sample to be sent to Ambry too. The genetic test is done by a blood sample correct?
I want to do all I can to prevent our baby from having CF, and other diseases too. So I need all the information I can get. And if at the end of our homework we still dont feel comfortable having our own child then we may consider adoption but this is our first choice.
Thanks
StevenKeiles
New member
Husband needs to be tested
Khristina,
You should make an appointment with the genetic counselor at Pan City. She can explain all the options and refer you to any places that are necessary.
Take it one step at a time. First wait for all the results on your husband. If he is negative, which is most likely, you won't need to consider any PGD.
Steve
Khristina,
You should make an appointment with the genetic counselor at Pan City. She can explain all the options and refer you to any places that are necessary.
Take it one step at a time. First wait for all the results on your husband. If he is negative, which is most likely, you won't need to consider any PGD.
Steve
Husband needs to be tested
Hi, my son (19 months with cf) had a genetic test about a year ago that only picked up one mutation (Delta F508). I'm not sure of the lab or how many mutations they tested for. Today I discussed the Ambry CF Amplified test with my son's cf doctor. She would like me to have my son tested with this test, and told me to call and set up an appointment. Is this something I can do myself or does the doctor need to do it? Please let me know how I get this started. I live in Connecticut. Thank you!
Hi, my son (19 months with cf) had a genetic test about a year ago that only picked up one mutation (Delta F508). I'm not sure of the lab or how many mutations they tested for. Today I discussed the Ambry CF Amplified test with my son's cf doctor. She would like me to have my son tested with this test, and told me to call and set up an appointment. Is this something I can do myself or does the doctor need to do it? Please let me know how I get this started. I live in Connecticut. Thank you!
Steven (Ambry)
hi steve, my son is now 5 he has deltaf508, and m470v,7t9t
polymorphism or varient. the doctoes at childrens cant call it yet.
his first cousin has cf. how can i get a definate answer
either way he is not gaining weight stomache aches asthma digestive
problems. can you piont me in the right direction?
thank you mother4
hi steve, my son is now 5 he has deltaf508, and m470v,7t9t
polymorphism or varient. the doctoes at childrens cant call it yet.
his first cousin has cf. how can i get a definate answer
either way he is not gaining weight stomache aches asthma digestive
problems. can you piont me in the right direction?
thank you mother4
StevenKeiles
New member
Steven (Ambry)
Amber,
Your doctor can order the test through the hospital or local laboratory. Which clinic are you going to? What type of doctor are you seeing? We work with many clinics in Conn. so it is possible your doctor or the local hospital has already used our lab before. Send your specific information to my private email and I will help you figure it out.
Mohter4,
Some patients with only 1 CF mutation can have mild CF like symptoms. It is also possible his symptoms are not related to CF. Which Children's hospital does he go to? What were his sweat test results? Did you son have deletion testing as part of his test. If you want to answer to my private email, I can provide you more information.
Best of luck,
Steve
Amber,
Your doctor can order the test through the hospital or local laboratory. Which clinic are you going to? What type of doctor are you seeing? We work with many clinics in Conn. so it is possible your doctor or the local hospital has already used our lab before. Send your specific information to my private email and I will help you figure it out.
Mohter4,
Some patients with only 1 CF mutation can have mild CF like symptoms. It is also possible his symptoms are not related to CF. Which Children's hospital does he go to? What were his sweat test results? Did you son have deletion testing as part of his test. If you want to answer to my private email, I can provide you more information.
Best of luck,
Steve
StevenKeiles
New member
Steven (Ambry)
Our deletion test checks for large portions of the CF gene that could be missing. These types of mutations are not detectable on a sequence test, that is why you need to do a special test just to look for deletions. They account for about 2% of all CF mutations. We have been doing this testing since early in 2005. Not every sample that is ordered receives deletion testing. The doctor must order the CF Amplified test to ensure deletion testing is performed. Anyone who has been tested before with just the full sequence test can have testing performed for just the deletion test only. We do not need to repeat the sequence test. You can check with the doctors at CHOP, they can order the deletion test if it has not been done and if they think it could be helpful.
Best of luck,
Steve
Our deletion test checks for large portions of the CF gene that could be missing. These types of mutations are not detectable on a sequence test, that is why you need to do a special test just to look for deletions. They account for about 2% of all CF mutations. We have been doing this testing since early in 2005. Not every sample that is ordered receives deletion testing. The doctor must order the CF Amplified test to ensure deletion testing is performed. Anyone who has been tested before with just the full sequence test can have testing performed for just the deletion test only. We do not need to repeat the sequence test. You can check with the doctors at CHOP, they can order the deletion test if it has not been done and if they think it could be helpful.
Best of luck,
Steve
sheiladickens
New member
Steven (Ambry)
Wondering if anyone knows anything about the S492f gene. I read somewhere that it affects the ddel. I am not sure what this means.
Delta f508 and s492f
Wondering if anyone knows anything about the S492f gene. I read somewhere that it affects the ddel. I am not sure what this means.
Delta f508 and s492f