Welcome Ambry Genetics

[mamaScarlett]

ok, another question-bear with me, my mind is just wandering with this.
would you say that people w cf (if they have a df508), have a deficiency of phenylalanine?
just curious to understand if we actually are deficient of the amino acids the mutations stop or change.

 

[StevenKeiles]

Christian,

People with deltaF508 are deficient in the CFTR protein, not phenylalanine. The amino acids are part of the code that make up the protein. When you have an abnormal or changed amino acid in the sequence it causes a defective or decreased amount of protein to be produced.

Steve

 

[littlemisskris16]

Steven (Ambry)

Hello Steve,

I posted in 2007 with results that my husband came back as an A-typical carry of CF. We were married in 2008, and waited a year to start trying for a baby.

I have Double DeltaF508 and my husband carries a 'rare variant (L967S)'. We were told when coupled with DDF508, it can cause A typical CF.

We met again with the genetic counsler and was told there was only one other case where the patient carried an F508 and a L967S, causing A typical CF.

We are not happy with the answers we have been given. We would like to know what are the percentages that our child would or could have CF. We are aware that our child would be a def carrier, bc of my mutation. We are not expecting, we are waiting to recieve some answers before we proceed.

Thanks in Advance for your help.

Kristy
32NY'er with CF/rD

 

[jmiller]

Steven (Ambry)

Hi Steve,

My sister and I were diagnosed at birth with mutations DF508 and 2184delA. I haven't been able to dig up too much information on the second. I know that it is a class 5 mutation. Can you share any info you might have about this specific mutation (phenotypic expression, protein function, etc). I know that class 5 means "reduced synthesis" but is there any way to know how much of the protein is making it across the cell sfc?

My sister and I consider ourselves healthy but do show signs of disease progression (at 26 and 28 years old). Our PFTs are in the 90s.

Thank you for your input!

Jackie

 

[taty05]

Steven (Ambry)

My son, Jesus had a doctor's appointment today, the dr. and I decided to try to use Ambry. We used a different lab before, but we were unsucsseful. The result only showed a change or a little difference on one of the CF's genes.
My question is, does Ambry take APIPA or CRS? Those are my son's insurances.

 

[mom2cameron]

Genetics testing

Hi I'm kinda new here and my 5 month old son was diagnosed at 1 month through a sweat test after a mutation showed up on his newborn screening test. Can you give me any information on the gene mutation 2307insA? I have looked it up everywhere I can think of and I'm not getting any info. Please tell me what you can about it and where I can get more infomation. We don't know the other mutation yet. Still waiting on the doctor to order his other testing to be done Thanks.

 

[taty05]

gen

Does anyone have an answer for me? Please!!!!!!

 

[StevenKeiles]

Steven (Ambry)

Kristy,

L967S is a mild mutation and when paired with deltaF508 could cause mild to moderate CF like symptoms. It is also possible to be very mild and not present with any significant problems for many years. I have only a few cases with these exact mutations and they are older patients, and it appears to be associated with pancreatitis. there is no way to know the exact percentages of if and when problems will develop and if so how severe.

I hope this helps. Best of luck,

Steve

 

[mom2cameron]

Hi...still waiting on any answers. Does anyone have any information on gene mutation 2307insA its one of the mutations on the newborn screening tests. Thanks

 

[StevenKeiles]

Steven (Ambry)

Jackie,

2184delA acts like a typical CF mutation and with DeltaF508 i would expect a classic CF presentation. There is no way to know how much protein is made and functional. CF can vary with all individuals regardless of the mutations. Some are severe, but not in everyone, some are mild but not in everyone. Unfortunately this is not an exact science.

Taty,

The best thing to do with any insurance questions is to contact our billing department for questions, or fax in your insurance information to us and we can check on covereage for you. There is an insurance preverification form on our website.

Best of luck,

Steve

 

[StevenKeiles]

Lyndsi,

My first question to you is were there two mutations identified on the newborn test, you only mentioned one. If there is only one, what were the sweat test results. If there are over 20 I would recommend that your son have a CF sequence test to check for the second mutation. It would be the other mutation that would determine the severity. The 2307insA is a severe mutation, so he would have to have another severe mutation in order to have a more classic presentation.

I hope this helps.

Steve

 

[Paige3]

Hi, I'm hoping someone can answer some questions regarding cf gene mutations. We learned a few months ago that youngest ds has 1 rare cf gene mutation, so we then decided to have older ds have a sweat test although he had one as a baby 15 years ago that we were told was negative. First sweat was positive, 60 something, so they did the double sweat test which were high borderline and the ambry amp. dna test which his brother had. We had appt. with the doctor and he said ds had one cf mutation and explained options for further testing to try to determine if ds has cf or not, but then said that a lot of people in this situation just treat symptoms and don't follow up with testing because it can cause problems with health and life insurance as well as with possible future employment. When the nurse was finishing up the appt. we asked for copy of ambry report and it turns out that ds has a different mutation than his little brother. Talked to doc. again and he said he would contact ambry genetics to ask questions and that they would probably be interested in results.

So does this mean that both ds probably don't have cf but what our ent doc. called a hybrid mutation that causes cf type symptoms? Wouldn't they have to have 2 mutations to actually have cf? Also does this mean that dh and I each have a rare cf gene mutation or possibly only one of us has 2 mutations? But if only one of us has 2 mutations that would mean that person has cf, correct?

Thanks for your help with these questions

It was suggested I copy this to this forum.

 

[mom2cameron]

This was the only one shown on the newborn screening. The doc has not ordered the tests for find the other one yet. He has had 2 sweat tests both positive so they are not in a hurry to do blood testing for diagnosis. His sweat tests were 101 and 105. He is already on enzymes bc he is pancreatic insufficient.

 

[StevenKeiles]

Lyndsi,

Based on that information, I would expect we would find the second mutation and it would most likely be a severe classic mutation.


Paige,

I would want to know the names of the people tested so I can look at all the results to determine what is going on. It would be best to contact me at Ambry with this information.

Steve

 

[dolphinsrule]

is there a simple explanation of a homozygous vs. heterozygous mutation? i read some info recently from merck and it conflicted with other info. thanks.

 

[StevenKeiles]

Fish Fan,

Homozygous means you have two variants or mutations that are both the same. ie. deltaF508/deltaF508

Heterozygous means that you only have one, thereby being a carrier. DeltaF508/normal

A compound heterozygote means that you have two different mutations and would be affected. DeltaF508/G542X

Steve

 

[mariahsmommy]

Hi my dd has DDF508. I know that there is no way to predict severity, but my question is, is severity based off of how many functioning CFTR proteins they have. Even with this mutation, can she still have some functioning CFTR proteins. Or for some, is it that the other channels, like the Calcium channel functioning above its normal capacity and allowing some chloride to escape. ( I think thats what I read somewhere.)

 

[mariahsmommy]

Hi my dd has DDF508. I know that there is no way to predict severity, but my question is, is severity based off of how many functioning CFTR proteins they have. Even with this mutation, can she still have some functioning CFTR proteins. Or for some, is it that the other channels, like the Calcium channel functioning above its normal capacity and allowing some chloride to escape. ( I think thats what I read somewhere.)

 

[missT]

Steve, just got my results back. I have W1282X and R117H. Heterozygous for the 5t allele in intron 8. It says that it is not possibleto determine if the R117H and 5t are in cis or trans. The poly T status in intron 8 is 5t/7t. I have no idea what all that means? I undertand the mutations but can you give me more info? I am PS and lungs are pretty bad.

 

[Gramma58]

Steve, I've been continuing to read and try to learn, and I have some more questions. On this site's postings, I find all sorts of combinations of mutations, but I don't think I have seen anyone report having one mutation from one parent and TWO from another, a total of 3 gene mutations. Is this rare? Does it change the prognosis one way or the other? On this and other sites, I find a lot of info on R117H, and some on S1235R (although it conflicts, with some saying it can be quite severe, others seem to say it might cause no trouble at all). I have seen almost zero written about R785X. Can you give me info on that gene mutation? Is he "R117H/S1235R and R785X"? From reading, I can tell that so many of us are looking for a strand of hope that OUR loved one's case will be the lucky mild one, it's true, and that, I admit, is what I am asking.Thank you very much for your help. Kathy