Welcome Ambry Genetics

[StevenKeiles]

Andrea,

Certainly some insurance companies do cover testing but in my experience the majority are covered. You can go to our website and click on resources and then click on ambry forms and we have an insurance preverification form which you can fill out and fax in and we can check on your benefits prior to testing. If you have any problems just call the office and ask for help.

The deltaF508 is considered a severe mutation, however it would depend on the other mutation to determine whether you would expect severe or a more mild disease.

best of luck,

Steve

 

[actNOWMom]

My daudgter has DF508 and W1282x. I was wondering if there is any clinical trials for her gong on with PTC124

 

[StevenKeiles]

Yes they are in the process of starting phase III clinical trials for the PTC 124. Patients have not been enrolled yet, you can check with you CF center to see if they will be enrolling patients for this trial.

Best of luck,

steve

 

[mrsp86]

my sons symptoms sre
1- failure to thrive he was admitted to hospital on the 30th of july for this
2-poor apitite as he is very sick has been since birth he is only on the first centile line on his plotting chart which is below the warning stage
3- caugh which he has had since birth really harsh
4-nappies oh my god they stink with white hard lumps in them although the poo is not formed
5-repeated bronculitus and other infectons due to low immune system
6-he is very small for his age 15 months still fitting 6-9month clothes.
10- always seems bunged up at the nose like he is full of the cold
his test is being done at the sick kids hospital in edinburgh scotland x


my sons sweat test chloride came back at 12 but people on the site have advised me to go for full gene screening but the gastro doctor is refusing what can i do

 

[StevenKeiles]

My understanding is that if it is not ordered through your physician in Scotland it would not be paid for. Therefore, you would either have to find another doctor that is willing to order it or you would have to have it sent out of the country and pay for it out of your own pocket. You may want to get another opinion first to see if they either think it could be something else or if they are suspicious of CF would consider ordering the test.

Best of luck,

Steve

 

[daisymae]

Hi Steve,

I am currently in the process of appealing to insurance to have them cover the full Ambry Test that a pulmonologist ordered for my daughter. Assuming that the appeal gets approved, do I need to have the test materials in hand when I take her to the lab for the blood draw or will they have what they need? I live in Texas and will be using a CPL blood draw station.

Thanks
Julie

 

[StevenKeiles]

Julie,

It would probably be best to have our test requisition form filled out by the doctor with a request to send this test to Ambry Genetics so there is no confusion, You can also have the lab call us for more information if they have any questions.

Steve

 

[kitomd21]

Hi Steve -

I've been posting on this forum for a few months now...you think I would've asked you some of the questions I've posted elsewhere!! Thanks for all of your input. I apologize if you've answered these questions in previous posts, but I have yet to read this thread in it's entirety.

Any information on the following questions will be greatly appreciated!

1. I read a post stating that the pairing of class 1 and class 2 mutations yields the most severe or rapidly progressing CF phenotype. I understand each case is different, but generally speaking, is this the true? We met with a geneticist that stated homozygous delta508 yields the most "severe" case.

2. Our daughter was admitted to the hospital at 2 weeks old due to respiratory issues (i.e., gag-like cough). In viewing/recalling her birth video, it appears she could have aspirated amniotic fluid - wouldn't this have been the more likely cause (i.e., aspiration pneumonia) as opposed to such early symptoms of CF? FYI, she cultured "normal" bacteria at that time. Could this have been mere coincidence?

3. Do homozygous delta508 individuals vary in the amount of misfolded CFTR at the cell membrane? Is this protein functional to any extent?

4. I've heard of VX-809 as a corrector to the misfolding process - how is this possible?

5. Is there any correlation with meconium ileus (my daughter did not have MI) and CF severity? Is MI most likely associated with future digestive issues (besides PI) such as intestinal blockage later in life as opposed to one who didn't have MI?

6. Do you know of any homozygous delta508 cases that exhibited mild CF?

7. Do you happen to know of UC Davis Medical Center as a CF Care Center? We also live near Sutter CF Care Center and Standford is a few hours away. Do you know of one being "better" than another or can we assume that they are all up-to-date on CF practices?

I hope I didn't take up too much of your time. Thanks for your help!

 

[StevenKeiles]

Katie,

Most of my experience is in the area of mutations and associated symptoms along with the wide variety of mutations that have been seen. Speaking to your questions about that, yes class I and II mutations are the more severe ones and when you have two severe mutations you usually have more severe or classic disease. However, there are always exceptions and there are people with two deltaF508 mutations who are not as severe as you would expect. Each case is an individual and there is no way to predict, so it is unlikely that MI or any other symptoms can be used to predict future problems.

Regarding the other medical questions, those would best be answered by your physician.

Best of luck,

steve

 

[kitomd21]

Thanks for you reply - to clarify, would having a class 1/class 2 be "worse" than a class 2/class 2? Again, someone posted on this site stating that class 1/class 2 pairings are "worse" than homozygous dd508.

 

[StevenKeiles]

I think all of those combinations fall into the more severe category. In many cases homozygous deltaF508 will be the worst and for some people two other mutations can be just as bad.

This issue is that most classic CF is two deltaF508 so that is the majority of people, but by no means is that the only severe genotype.

Steve

 

[kitomd21]

Thank you!

 

[daisymae]

Hi Steve,

I'm still waiting to hear about the appeal that was submitted to insurance but hoping that it gets approved quickly so we can have my daughter's blood sent to Ambry. But I was just wondering out of curiousity, does Ambry receive many blood samples that get the full gene sequencing done and no mutations are found? I'm just trying to gauge how accurate the doctors are when they request the test, or if a lot of doctors request it for peace of mind for the patients when ultimately the patient doesn't have CF. My daughter's doctor doesn't really think she has CF, and if she does he thinks it's A-typical but based on her sweat tests (34 & 30) he wants the full test done.

Thanks
Julie

 

[arbrown5676]

My daughter, Raegan has CF. Mutations 2184insA & Delta F508. I was told not everyone has the same symptoms or severity with this combination. Can you tell me what the most common symptoms are??

 

[StevenKeiles]

Julie,

There are certainly a lot of tests that we receive where we find no mutations and i would suspect it it what you said. doctors are often ordering the test on borderline cases to make sure it is not CF. It certainly makes sense because some people with the same symtpoms could have two mutations and have a form of CF and others could be negative and not have CF.

Reagans Mom,

It is difficult to list symptoms specific to a certain mutation. There are very general symptoms and we see them in an lot of atypical and typical CF patients. this would include things like chronic sinusitis, lung infections and some GI symptoms like pancreatitis.

Steve

 

[daisymae]

Hi Steve,

Insurance approved the Ambry test for my 1 year old daughter so her blood was drawn today and should be sent to Ambry ASAP. I'm not 100% confident that the lab knew exactly where to send it. Is there anyway I can be informed of when it is received by Ambry just so I know it got there? Also, right now, approximately how long is it taking for results to be sent to the doctors? My doctor said it would be about 3-6 weeks. My daughter is having the full CF genetic test done. Her sweat tests were 34 & 30. The initial genetic screening came back with no mutations.

Thanks
Julie

 

[StevenKeiles]

Julie,

send me a private email with your daughters information and I can let you know when it arrived. Also the results do take 3-5 weeks but we have been averaging more like 3-4 weeks with deletion testing and if we do not need to do that it takes more like 3 weeks.

Best of luck,

Steve

 

[daisymae]

Hi Steven,

Thanks for all of your help. I sent you a private email this morning with my daughter's information. Please let me know if you need any other info about her to check if her blood sample was received at Ambry.

Thanks!
Julie

 

[Shelbyville]

Steven:

There are a lot of brave folks with big hearts on this forum. Just some minor questions. I have atypical CF DF508 / R117H with the 7T,9T poly T variant. Ambry Genetics analyzed the specimen (Results Report # 009951948). The Doc and I were discussing the length of the poly T variant being inversely proportional to the severity of CF. The higher the poly T value the less severe. The question came up of what poly T was associated with which mutation. That's where I got lost and figured go to the source. I have read 5T in cis with R117H is severe so 7T is not as bad and 9T is even better is that how it works or are 7T and 9T combined, in cis or trans? Or is it how many 7T's one has compared to 9T's? Just confused and a bit new here dx'd myself in March 2008. What the heck do I have poly T wise?

I have bronchx, osteopina, no vas (discovered 1990 along with DF508 one copy, back then "NO CF" it's a long story), acute panctus (2 hospital 2 + home), multi colored junk every day and sweats of 32 after a day in 90 degree heat working like a dog. I'm surprised they found any salt / chloride. Very lucky with lung function and lucky I started running 15 years ago. Doc said "one of the main reasons you are still well". It ain't easy (running) to say the least! My lavender "Breathe" "Cure Cystic Fibrosis" power band helps with the running HA! I do have one and use it, thanks to Zoe4life!

Beings the CF database is growing are there people who have these mutations w/o any symptoms (old people like me 52). I am the oldest with these mutations in our clinic. The Ambry Report states "The combination of these mutations would be expected to cause cystic fibrosis, however the severity cannot be predicted". What variations are consistent with late onset of these mutations? My Doc said I'm a mild case and that seems to be accurate to this point. The past two years have changed my health significantly luckily w/o a nasty infection. Mild means late onset with PS? Mild or not it seems to be progressive if not aggressive once its presence is experienced.

My Doc is the best. I did not want to consume too much time during his appointments so I'm bothering Ambry the source of genetic information for these details. Mr. Keiles thank you for your time in advance and a special thank you to all of the brave members on the forum who have contributed selflessly.


Steven

 

[SandyCheeks]

Steve,
I received the results from my dd's testing at Ambry. I was told they did the deletion and duplication testing with her sample. Is it possible for you to tell me if this is true or not? I also have a copy of the report that recommends adding these, so I am confused. Also, if it has not been done can our dd's primary physician order this part of the test or does the initial ordering physician have to do this?
Thanks,
Sandy