Welcome Ambry Genetics

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StevenKeiles

New member
Just wanted to let everyone know that I have been out of the office a lot this last week and will be for the next several weeks. In fact I am on a plane right now on my way to Baltimore for the CF meetings. So just be patient and I will reply to all questions as I am able.

Thanks,

Steve
 
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jmom

New member
Steven and Ambry Genetics-
Just wanted to let you know that we all appreciate this post and the chance to ask questions. I'm sure your company has made an indescribable difference in many people's lives.
 
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FunusW

New member
Hi Steve

Wonder if you can help. My on has mutation Delta F508 and L732X. Can you tell me if this is a mild mutation. (I know that you can't really say) but have you seen the last mutation before. My son was diganosed through the newborn screening test in the UK and has not been sick at all. He is 10 months old.

Marisa
 
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LondonFog214

New member
Could you tell me about my two children's mutations? They are 394delTT and L997F. Thank you.

Mom of 11 y/o daughter and 14 y/o son with cf dx 2010
mutations 394delTT and L997F
 
S

StevenKeiles

New member
Marisa and London Fog,

deltaF508, L732X and 394delTT are all typical CF disease causing mutations. L997F is a more moderate mutation which often results in milder symptoms and later onset.

You can never predict exactly what will happen since all patients are different and even two people in the same family can have different symptoms.

Best of luck to both of you.

Happy Holidays to everyone out there, Myself and everyone here at Ambry Genetics wishes everyone a happy and most of all healthy holiday season.

Steve
 
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gunelle

Guest
Hi, I have a question about the mutations R117C and R117H. I have the mutations F508del/R117C, but have seen many posts from people with the mutations F508del/R117H. I have searched the internet for R117C and R117H, and see that they are mentioned together like the were the same. But I think that there has to be a difference... can you tell me where they differ or if they differ at all? And also tell me some info about my mutations?

Thank you very much

Gunhild
 
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twodogstudio2

New member
Hello I have a question about the modulation therapies. If one of the VX trials shows effects for people with double F508 Del will this most likely benefit those with just one copy of F508 Del? Or do we have to wait for further studies? Which leads me to my second question, is one of a person's mutations just "along for the ride" while the other one determines what is going on at the cellular level? Or do both mutations act together to determine the process?

It seems as if my daughter's "milder" mutation is determinig her condition but does her F508Del restrict the movement and development of her mRNA the same as it would in a homozygous patient? If the answer to that is yes it seems any therapy proven to correct double deltas might also help her.

Thanks so much for contibuting to this discussion.
 
S

StevenKeiles

New member
Gunhild,

The two mutations are different but act in a similar way. They are both milder mutations which may not even cause symptoms in many people.

Twodogstudio,

Any of the drugs that target a particular mutation would be useful for anyone who carries at least one of those mutations. Not sure if the effectiveness would be more for those who have two mutations or not.

Steve
 
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mom2owen

New member
What is the difference between what Ambry does for testing and what Mayo Clinic does? And, how can I find out if they sent my son's blood to you?
 
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mom2owen

New member
What is the difference between what you and Mayo do? How can I find out if they sent my son's blood to you? It was over a year ago but I was told they checked for around 200 mutations???
Thanks!
**sorry for the double post, I had computer issues last night!**
 
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StevenKeiles

New member
I cannot speak about what is done in another laboratory. if you want to email me at my ambry email I can check on your son's test.

thanks,

Steve
 
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flwrchldkb

New member
Just out of curiosity, how many patients are there with the mutation combination of delta F508 and R1066C? I have only found one other with it!
 
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StevenKeiles

New member
I have 14 patients with that combination in the Ambry database and if you add Conner that makes 15 that I know of.

I hope that helps you.

best of luck,

Steve
 
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MyBabyCeline

Member
Hi Steve,

I have more than one question and I would really apprecitae any kind of information you can give me. My 6 week old daughter was just diagnosed with CF, she has no symptoms and her diagnosis was based on the newborn screening. We found the mutations 2183aa>g (A to G at 2183 and deletion of A at 2184) and F693L (T to C at 2209).
I was wondering what kind of information you have about these 2 mutations and if there's any idea about their genotype/phenotype correlation? Are there any patients in your database with this combination of mutations? And if so do you have any idea what their course of disease is taking?
I was also wondering if a person has one severe and one mild mutation, does this help indicate anything about the course of the disease? Like does it usually lean towards the more severe or milder one?
 
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jeannes

Guest
ENaC analysis?

Does Ambry offer ENaC testing? I read some articles that reported a CF-like disease in patients with an ENaC mutation and 1 or no CFTR mutations. But I could not find any place that offered ENaC testing -so perhaps this is still in research??
 
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KatnAshlee

Guest
G542X (c.1624G>T) ; L671X (c.2012delT) Help single mum plse....

Hi there Steve, and anyone else who is able to help......

I am currently in hospital with my 3month daughter who has had ongoing breathing issues since birth. The breathing does not distress her in the slighest, infact it is me that is pulling my hair out. Trying to understand CF and the different severitys has been stressful on top of the hospital not being able to confirm what is causing the fast resporiatory rate. Since birth she has had irregular breathing patterns that seems to take a lot of effort and work from the stomach area. Due to this it has affected her feeding, but apart from that she is very happy, and the doctors cant believe how healthy looking she is. What concerns me is the irregular breathing where her rest rate reaches anywhere from 80-110. They have called it periodic breathing patterns, and are mystified as what is causing it.

(a) Numerous tests have come back for negetive infection
(b) ECG and Echo tests look normal
(c) Xrays show no patchyness to lung area, and temperature has been consistently normal

Apart from no answers for the erratic breathing, I am really intrested in learnng about her genes. I have been told I could be waiting 2-3 months to meet the genetics team.
I would really like to hear from people who have the same combination of mutations, and Steve are you able to advise me how many people have this in your datbase (plz I am so desperate from some answers regarding her gene combination)
I have read through you entire message board, and have enjoyed learning more about genetics and peoples experiences, but would love to hear of the charactistrics of her mutations seen in CF, and most of all class and severity of these.

G542X (c.1624G>T)
L671X (c.2012delT)

My daughter is pancratic insufficient and seems to be working well with the enzymes, although due to the energy she is burning off with the breathing we are currently tube feeding her as she gets to tired, or is just not interested in her feeding. Im really struggling at the moment and am not sure how much I can take. The only thing keeping me going is that my daughter is the most beautiful girl, who is always so happy and smiling.

Any, any advice or feedback would be greatly appreciated
 
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imagine04

New member
Hi Steve,

My son has DF508 and we just got news that the other is p.Ile1023_Val1024del. Our clinic team wasn't able to tell us anything about this specific gene and we're just curious about what it means for our son or if there is any information available on this in combination with the DF508 mutation. We're still new to the world of CF (our son was diagnosed on 11/15/10 @ 3wks old) so the mutations are all a bit confusing to us and even more confusing when our team doesn't seem to know what his most recent genetic screening really shows other then having that information available to them.

I really appreciate any help you can offer us. His genetic tests were done at Mayo.


Thank you,
Jeanne
 
S

StevenKeiles

New member
G542X (c.1624G>T) ; L671X (c.2012delT) Help single mum plse....

Kat

Both of those mutations are considered severe or classic cf mutations. The fact that she is pancreatic insufficient fits with this combination.

One thing to remember is that all kids are different even if the mutations are the same. You can never predict what will happen based on the mutations. Some will always do better than others.

I hope that helps.

Steve
 
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