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Welcome Ambry Genetics
- Thread starter Buckeye
- Start date
M
momofone
Guest
Hi Steve,
Are you able to tell me how common the mutation p750l is? I see a few people on this board with this mutation. My son has it also. He has pancreatitis. How often is this mutation related to pancreatitis? Our pancreas doctor told us some mutations are more severe for pancreatitis and not as severe for lung problems. He also has Asthma. He was given the full panel through Ambry and only found one. I have searched on the web and cant find too much.Thanks so much!
Are you able to tell me how common the mutation p750l is? I see a few people on this board with this mutation. My son has it also. He has pancreatitis. How often is this mutation related to pancreatitis? Our pancreas doctor told us some mutations are more severe for pancreatitis and not as severe for lung problems. He also has Asthma. He was given the full panel through Ambry and only found one. I have searched on the web and cant find too much.Thanks so much!
StevenKeiles
New member
Dear Mom,
We have seen other patients with this mutation and pancreatitis, so that is not suprising. This is not a severe classic mutation and is usually associated with a more moderate disease. However, since we have only one CF mutation, I wonder if pancreatitis is the main symptom if he might not also have mutations in other genes that are associated with pancreatitis. These genes are PRSS1 and SPINK1. Just a thought for consideration.
Steve
We have seen other patients with this mutation and pancreatitis, so that is not suprising. This is not a severe classic mutation and is usually associated with a more moderate disease. However, since we have only one CF mutation, I wonder if pancreatitis is the main symptom if he might not also have mutations in other genes that are associated with pancreatitis. These genes are PRSS1 and SPINK1. Just a thought for consideration.
Steve
M
momofone
Guest
Steve,
Thanks for your response. I believe he was tested for those and they came back negative. He has pancreatitis, colitis,reflux, weight loss..
Thanks for getting back with me so quickly. Only info I can find that the p750l is a mexican novel mutation. How common is the mutation? Thanks again- so very much.
Thanks for your response. I believe he was tested for those and they came back negative. He has pancreatitis, colitis,reflux, weight loss..
Thanks for getting back with me so quickly. Only info I can find that the p750l is a mexican novel mutation. How common is the mutation? Thanks again- so very much.
Hi Steve,
I have learned so much from your posts. Myself and daughters are carriers of the R560T mutation. One of my daughters test came up heterozygous for the R560T mutation. What does the heterozygous part mean? I had severe health problems as a child with chronic bronchitis and asthma. My sweat test came out negative for CF, I wish I knew what the numbers were... this was the 1970's. Anyway, both my daughters carry the CF symtoms in different ways. They only tested all of us including my husband for 23 mutations through Quest. My husband came up normal. I am most concerned for my middle child because she has had pneumonia 3 times this year, and suffers from asthma, and constant sinus etc. My oldest daughter's middle name is "constipation" since birth and Asthma. They both had severe gerd as infants. My youngest has pneumonia now and is only 18 month old. I am going to push for sweat tests. I am hoping they are just carriers with symtoms. If sweat tests come out normal should I still ask for further testing with Ambry?
I have learned so much from your posts. Myself and daughters are carriers of the R560T mutation. One of my daughters test came up heterozygous for the R560T mutation. What does the heterozygous part mean? I had severe health problems as a child with chronic bronchitis and asthma. My sweat test came out negative for CF, I wish I knew what the numbers were... this was the 1970's. Anyway, both my daughters carry the CF symtoms in different ways. They only tested all of us including my husband for 23 mutations through Quest. My husband came up normal. I am most concerned for my middle child because she has had pneumonia 3 times this year, and suffers from asthma, and constant sinus etc. My oldest daughter's middle name is "constipation" since birth and Asthma. They both had severe gerd as infants. My youngest has pneumonia now and is only 18 month old. I am going to push for sweat tests. I am hoping they are just carriers with symtoms. If sweat tests come out normal should I still ask for further testing with Ambry?
StevenKeiles
New member
I would say the P750L is rare but not as rare as most mutations.
Suey,
If the sweat test if very normal, <10, then I think that is very reassuring it is not CF. However, given the symptoms, if the sweats are more like 20's or higher, I would recommend the Ambry Test.
Steve
Suey,
If the sweat test if very normal, <10, then I think that is very reassuring it is not CF. However, given the symptoms, if the sweats are more like 20's or higher, I would recommend the Ambry Test.
Steve
StevenKeiles
New member
Mum,
The G551D is more common mutation, the E60X is not as common but one that is seen with some regularity. Both are probably typical CF type mutations which could result in a typical CF. You have to remember there is always variability so not every person with the same mutations will have the same disease.
best of luck,
Steve
The G551D is more common mutation, the E60X is not as common but one that is seen with some regularity. Both are probably typical CF type mutations which could result in a typical CF. You have to remember there is always variability so not every person with the same mutations will have the same disease.
best of luck,
Steve
HI Steve,
I have a copy of my son's CF gene sequencing by Quest.
Results say"negative"
However a few things poped up that I question.
One, it says 2 copies of the polymorphism M470V were found. It states this polymorphism has no clinical significance but my internet searching has shown that the M470V does cause a reduced functioning of the CFTR Protein.
Also Poly T Status in intron 8 is 5T/7T and the TG stus is 11TG/12TG
I far as I can understand the 5T is significant. Wouldn't this make him at least a carrier.
Could it be that the 5T/ 11TG and the 2 copies of M470V make him positive for CF. Like I said he is fairly asymptomatic. However he had a positive sweat test. Which they are calling Gold Standard and diagnostic.
THanks for your time.
Sandy
I have a copy of my son's CF gene sequencing by Quest.
Results say"negative"
However a few things poped up that I question.
One, it says 2 copies of the polymorphism M470V were found. It states this polymorphism has no clinical significance but my internet searching has shown that the M470V does cause a reduced functioning of the CFTR Protein.
Also Poly T Status in intron 8 is 5T/7T and the TG stus is 11TG/12TG
I far as I can understand the 5T is significant. Wouldn't this make him at least a carrier.
Could it be that the 5T/ 11TG and the 2 copies of M470V make him positive for CF. Like I said he is fairly asymptomatic. However he had a positive sweat test. Which they are calling Gold Standard and diagnostic.
THanks for your time.
Sandy
StevenKeiles
New member
Sandy,
The 5T with an 11TG is a like a very mild mutation and if it is with the 12TG it is a more significant mutation. However, almost 50% of the population has M470V so it is really hard to say what the significance of that is.
I would check to see if they also did deletion testing and if that is negative it looks more like a carrier only. If no deletion testing has been done, I would have that part done.
good luck,
Steve
The 5T with an 11TG is a like a very mild mutation and if it is with the 12TG it is a more significant mutation. However, almost 50% of the population has M470V so it is really hard to say what the significance of that is.
I would check to see if they also did deletion testing and if that is negative it looks more like a carrier only. If no deletion testing has been done, I would have that part done.
good luck,
Steve
A
alegris
Guest
Hi Steve,
My mutations are DF508 and 3396delC. Have you ever come across another individual with the 3396delC mutation? I know it causes a frameshift and is therefore a Class I mutation, but in my case it seems to only cause a 'mild' form of CF. Just wondering.
Thanks.
My mutations are DF508 and 3396delC. Have you ever come across another individual with the 3396delC mutation? I know it causes a frameshift and is therefore a Class I mutation, but in my case it seems to only cause a 'mild' form of CF. Just wondering.
Thanks.
Genetics testing
HI Steve,
My son who is almost 3 had newborn screening done. I thought they checked for the most common mutations. They said they checked the IRT level enzyme and it was normal. What is IRT and is that what they all do in newborn screening. He isn't sick,no funny bowls,growing and gaining weight. I have a son who is 10 and has CF. I guess that's what they did for him too and we needed further testing done on him. Thanks!
laurie
HI Steve,
My son who is almost 3 had newborn screening done. I thought they checked for the most common mutations. They said they checked the IRT level enzyme and it was normal. What is IRT and is that what they all do in newborn screening. He isn't sick,no funny bowls,growing and gaining weight. I have a son who is 10 and has CF. I guess that's what they did for him too and we needed further testing done on him. Thanks!
laurie
StevenKeiles
New member
I have not seen a 3396delC mutation before. Which of course means that it is very rare.
Steve
Steve
StevenKeiles
New member
Rhonda,
Currently, the following states have newborn screening programs for CF:
Alabama* Illinois Nebraska Rhode Island
Alaska Iowa New Hampshire South Carolina
Arizona* Kentucky New Jersey South Dakota
California Maryland New Mexico Virginia
Colorado Massachusetts New York Washington
Connecticut Michigan* North Dakota Wisconsin
Delaware Minnesota Ohio Wyoming
District of Columbia Mississippi Oklahoma
Florida Missouri* Oregon
Georgia Montana Pennsylvania
* Newborn screening testing required, but not yet implemented.
Many other states are in the process of developing their programs as well. I know of Hawaii, Arkansas, Tennessee and Utah.
Steve
Currently, the following states have newborn screening programs for CF:
Alabama* Illinois Nebraska Rhode Island
Alaska Iowa New Hampshire South Carolina
Arizona* Kentucky New Jersey South Dakota
California Maryland New Mexico Virginia
Colorado Massachusetts New York Washington
Connecticut Michigan* North Dakota Wisconsin
Delaware Minnesota Ohio Wyoming
District of Columbia Mississippi Oklahoma
Florida Missouri* Oregon
Georgia Montana Pennsylvania
* Newborn screening testing required, but not yet implemented.
Many other states are in the process of developing their programs as well. I know of Hawaii, Arkansas, Tennessee and Utah.
Steve
H2OSPORTSMOM
New member
Hi Steve,
About how long does it take to get the results from Ambry on an Amplified screen.
My son gave blood sample on Nov. 13. My MD's lab requested kit at my request for Ambry to do testing. I am curious and anxious.
Thanks,
SMJ
About how long does it take to get the results from Ambry on an Amplified screen.
My son gave blood sample on Nov. 13. My MD's lab requested kit at my request for Ambry to do testing. I am curious and anxious.
Thanks,
SMJ
StevenKeiles
New member
SMJ,
Our turn around time is 3-5 weeks but it averages on the shorter end.
Steve
Our turn around time is 3-5 weeks but it averages on the shorter end.
Steve